ClinVar Genomic variation as it relates to human health
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Benign(8); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
Variation ID: 199044 Accession: VCV000199044.61
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 155236376 (GRCh38) [ NCBI UCSC ] 1: 155206167 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 2, 2016 Aug 4, 2024 Jun 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000157.4:c.1093G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000148.2:p.Glu365Lys missense NM_001005741.3:c.1093G>A NP_001005741.1:p.Glu365Lys missense NM_001005742.3:c.1093G>A NP_001005742.1:p.Glu365Lys missense NM_001171811.2:c.832G>A NP_001165282.1:p.Glu278Lys missense NM_001171812.2:c.946G>A NP_001165283.1:p.Glu316Lys missense NC_000001.11:g.155236376C>T NC_000001.10:g.155206167C>T NG_009783.1:g.13322G>A NG_042867.1:g.2838C>T P04062:p.Glu365Lys - Protein change
- E365K, E278K, E316K
- Other names
- E326K
- Canonical SPDI
- NC_000001.11:155236375:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00499 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00437
1000 Genomes Project 0.00499
Trans-Omics for Precision Medicine (TOPMed) 0.00634
Exome Aggregation Consortium (ExAC) 0.00979
The Genome Aggregation Database (gnomAD), exomes 0.01046
The Genome Aggregation Database (gnomAD) 0.01061
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 396 | |
LOC106627981 | - | - | - |
GRCh38 GRCh38 |
- | 352 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
May 25, 2020 | RCV000252989.22 | |
risk factor (1) |
criteria provided, single submitter
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Dec 12, 2014 | RCV000414984.10 | |
risk factor (1) |
criteria provided, single submitter
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Feb 17, 2014 | RCV000415149.10 | |
Benign (8) |
criteria provided, multiple submitters, no conflicts
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Jun 1, 2024 | RCV000487503.50 | |
risk factor (1) |
criteria provided, single submitter
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Jun 19, 2014 | RCV000415387.10 | |
Benign (3) |
criteria provided, single submitter
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Jan 22, 2020 | RCV001248923.13 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jul 17, 2023 | RCV001509572.11 | |
risk factor (1) |
criteria provided, single submitter
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May 3, 2021 | RCV001836745.10 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(-)
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criteria provided, single submitter
Method: clinical testing
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NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000305636.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
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Benign
(Jun 02, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000539226.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 0.97% in ExAC, 4.3% in Finnish, 12 hom (less)
Method: Genome/Exome Filtration
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risk factor
(May 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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Parkinson disease, late-onset
Affected status: yes
Allele origin:
germline
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Fulgent Genetics, Fulgent Genetics
Accession: SCV001652785.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
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Likely benign
(May 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697574.2
First in ClinVar: Mar 01, 2018 Last updated: Jul 06, 2020 |
Comment:
Variant summary: GBA c.1093G>A (p.Glu365Lys) results in a conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein … (more)
Variant summary: GBA c.1093G>A (p.Glu365Lys) results in a conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.01 in 252724 control chromosomes, predominantly at a frequency of 0.012 within the Non-Finnish European subpopulation in the gnomAD database, including 11 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 2.4 fold of the estimated maximal expected allele frequency for a pathogenic variant in GBA causing Gaucher Disease phenotype (0.005), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. c.1093G>A has been reported in the literature in individuals affected with Gaucher Disease. This variant did not co-segregate with disease in at-least one family with a clinical diagnosis of Gaucher's disease. Specifically, while two affected siblings were compound heterozygous for G202R and L444P, the healthy father carried this variant in compound heterozygous state with G202R, further supporting non-pathogenic role (Zhao_2003). This variant has been reported in many GD patients, all within a complex allele with another variant in cis (such as D140H+E326K, N188S+E326K, and L444P+E326K), and the variant alone has not been reported in any GD patients. This variant has also been reported in many PD patients, and has been suggested to be modestly increase risk for PD with borderline odds ratios (OR) by multiple studies in Europeans, including a GWAS study (Nichols_2009, Lesage_2011, Pankratz_2012, Durhan_2013, Ran_2016, Mata_2016). Meanwhile, there are other conflicting case-control studies that do not show this variant as a significant risk allele for PD (Bras_2009, Alcalay_2015, Han_2016). Multiple functional studies show that the variant alone could lead to 30-60% of wild-type enzymatic activity and the complex alleles show much lower activities than the each of the single variant alone, suggesting an additive effect. However, in at-least one reported instance, the specific activity of the complex allele E326K+L444P was not different from that of L444P alone in a study where a genotype of E326K+L444P and E233X in trans was reported in a patient with a severe neonatal type 2 course (Grace_1999). This points to L444P being more penetrant relative to E326K in this patient. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. While one clinical diagnostic laboratory has classified this variant as benign and two have classified it as uncertain significance. Another lab classified it as risk factor before 2014, all without evidence for independent evaluation. Taken together, in context of Gaucher disease, this variant alone is likely not disease-causing; however, it can possibly increase the functional defect of another GBA variant in cis. In context of Parkinsons disease, this variant may be a mild risk allele. Since this variant does not confer a considerable or clinically significant risk for Parkinsons disease and does not cause Gaucher disease, it is classified as likely benign in line with its role as functional polymorphism. (less)
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Likely benign
(May 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease perinatal lethal
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001716345.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Sex: mixed
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Benign
(Jan 22, 2020)
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criteria provided, single submitter
Method: curation
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Gaucher disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001422690.2
First in ClinVar: Jul 19, 2020 Last updated: Feb 05, 2022 |
Comment:
The p.Glu365Lys variant in GBA has been reported in at least 14 individuals with Gaucher disease (PMID: 15967693, 23225227, 29980418, 11903352) and has been identified … (more)
The p.Glu365Lys variant in GBA has been reported in at least 14 individuals with Gaucher disease (PMID: 15967693, 23225227, 29980418, 11903352) and has been identified in 4.325% (1086/25110) of European (Finnish) chromosomes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs2230288). This variant has also been reported in ClinVar (VariationID: 199044) as likely benign by Integrated Genetics, as a VUS by Mayo Clinic Genetic Testing Laboratories and Praxis fuer Humangenetik Tuebingen, and as benign by Laboratory for Molecular Medicine, EGL Genetic Diagnostics, and University Medical Centre Ljubljana. The p.Glu365Lys variant did not segregate with Gaucher disease in 2 affected relatives of an individual with the variant, suggesting that this variant is not pathogenic for Gaucher disease (PMID: 12791040). In vitro functional studies demonstrating that the variant alone reduces enzyme activity only to the lower level of the normal range, about 42% of wild-type, provide some evidence that the p.Glu365Lys variant may not impact protein function when not part of a complex allele. Additional functional studies have shown that the variant leads to further reduction of enzyme activity when in cis with other pathogenic variants, suggesting that the variant may increase disease severity when in cis with a pathogenic variant (PMID: 15967693, 23225227, 22227325). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. This variant was found in cis with another pathogenic variant in every Gaucher disease patient found to carry the variant, suggesting that it may not cause disease (VariationID: 4288, 4290, 4314; PMID: 15967693, 23225227, 29980418, 11903352). In summary, this variant meets criteria to be classified as benign for Gaucher disease in an autosomal recessive manner--but is expected to increase disease severity as part of a complex allele--based on the high frequency of the variant in the general population, nonsegregation of the variant with disease, the presence of the variant in cis with pathogenic variants in affected individuals, and in vitro functional studies. ACMG/AMP Criteria applied: BS1, BS4, BP2, BS3_supporting (Richards 2015). (less)
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Benign
(Sep 12, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001941268.2
First in ClinVar: Sep 29, 2021 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 21700325, 11903352, 15146461, 22623374, 16293621, 21742527, 21831682, 22227325, 18987351, 22001711, 27094865, 27571329, 27312774, 26000814, 28030538, 26296077, … (more)
This variant is associated with the following publications: (PMID: 21700325, 11903352, 15146461, 22623374, 16293621, 21742527, 21831682, 22227325, 18987351, 22001711, 27094865, 27571329, 27312774, 26000814, 28030538, 26296077, 27153395, 1864608, 28834018, 28830825, 29140481, 30302829, 30146349, 29842932, 29487000, 30777654, 24022302, 23225227, 31996268, 32618053, 32658388) (less)
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Benign
(Jun 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000574790.28
First in ClinVar: May 08, 2017 Last updated: Aug 04, 2024 |
Comment:
GBA1: BS1, BS2
Number of individuals with the variant: 56
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risk factor
(Jun 19, 2014)
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criteria provided, single submitter
Method: clinical testing
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Dementia
Hyperlipidemia Hypertensive disorder Lower limb muscle weakness Abnormality of speech or vocalization Parkinsonian disorder
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492849.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
|
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risk factor
(Dec 12, 2014)
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criteria provided, single submitter
Method: clinical testing
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Cogwheel rigidity
Parkinsonian disorder Rigidity Tremor
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492833.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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risk factor
(Feb 17, 2014)
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criteria provided, single submitter
Method: clinical testing
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Parkinsonian disorder
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492891.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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Benign
(Nov 14, 2014)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000232999.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 12
Sex: mixed
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Benign
(Sep 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002048522.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
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Benign
(Aug 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003244248.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
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Uncertain significance
(Jul 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease perinatal lethal
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV005086522.1
First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3C. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3C. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Gaucher disease (MIM# 230800, 230900, 231000, 231005, 608013). (I) 0106 - This gene is associated with autosomal recessive disease. The different types of Gaucher disease are considered to fall within a spectrum, rather than distinct conditions, and are determined by age of disease onset and the presence and severity of neurologic function. Specific counseling about individual case prognosis is hindered by a significant overlap in the clinical features of individuals with various genotypes (OMIM, PMID: 20301446). (I) 0115 - Variants in this gene are known to have variable expressivity. Gaucher disease is associated with marked clinical variability, even within the same family (PMID: 31010158). (I) 0200 - Variant is predicted to result in a missense amino acid change from glutamic acid to lysine. (I) 0251 - This variant is heterozygous. (I) 0306 - Variant is present in gnomAD (v2) >=0.03 and <0.05 for a recessive condition (1961 heterozygotes, 37 homozygotes). (I) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v3) (1 heterozygotes, 0 homozygotes). (I) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0600 - Variant is located in the annotated glycosol hydrolase family 20 TIM-barrel domain (DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0808 - Previous reports of pathogenicity for this variant are conflicting. This variant has been classified as benign, likely benign, a VUS and a risk factor by clinical laboratories in ClinVar, and has been observed in cis with three different missense variants in individuals with Gaucher disease where it is described as part of a complex allele (PMIDs: 1864608, 10079102, 15146461). (I) 1002 - This variant has moderate functional evidence supporting abnormal protein function. This variant by itself has been shown to have between 40 and 60% of normal enzyme activity, but when it is part of a complex allele with other variants this results in enzyme activity of between 3-20%. When this complex allele involves p.(Asp179His) or p.(Asn188Ser) this combination lowers the enzyme activity below what either variant alone retains, but this difference is minimal when the complex allele involves p.(Leu444Pro) (PMIDs: 10079102, 15146461). (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744809.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Benign
(Apr 23, 2020)
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no assertion criteria provided
Method: clinical testing
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Gaucher disease
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001455161.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808045.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928214.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964892.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Uncertain significance
(Jan 19, 2024)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000800927.1
First in ClinVar: Aug 04, 2018 Last updated: Aug 04, 2018 |
Comment:
The heterozygous c.1093G>A (p.Glu365Lys) missense variant in the GBA1 gene (MIM:606463) is classified as a variant of uncertain significance. Pathogenic variants in the GBA1 gene … (more)
The heterozygous c.1093G>A (p.Glu365Lys) missense variant in the GBA1 gene (MIM:606463) is classified as a variant of uncertain significance. Pathogenic variants in the GBA1 gene have been associated with autosomal recessive Gaucher disease. This variant has been reported previously in the literature as a modifier variant or very mild variant (PMID 24022302; PMID 21831682). This variant has also been reported at a higher frequency in patients with Parkinson's disease as compared to controls with an odds ratio of 1.65-5.5 (PMID 29842932; PMID 32618053; PMID 27571329; PMID 26296077; PMID 27094865; PMID 28830825; PMID 32853481). Expression studies from several groups showed an average enzyme activity between 39% and 54% of wild type constructs (PMID 24022302; PMID 21831682). This level of activity reduction is not sufficient to cause Gaucher disease when in trans to another pathogenic GBA mutation. The overall minor allele frequency for this variant (rs2230288) is approximately 1.073% with a frequency up to 4.325% in Finnish sub-populations. This amino acid is moderately conserved across species and an in silico meta-predictor is inconclusive as to whether this amino acid change impacts protein function. Taken together, the evidence is not sufficient to determine whether this variant is a hypomorphic allele or is associated with increased risk for Parkinson's disease. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Gaucher disease
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV002586407.1
First in ClinVar: Oct 29, 2022 Last updated: Oct 29, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Gaucher Disease. | Adam MP | - | 2023 | PMID: 20301446 |
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches. | Riboldi GM | Cells | 2019 | PMID: 31010158 |
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. | Hassan S | Molecular genetics and metabolism | 2018 | PMID: 29980418 |
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. | Geiger JT | Neurobiology of disease | 2016 | PMID: 27312774 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. | Mata IF | Movement disorders : official journal of the Movement Disorder Society | 2016 | PMID: 26296077 |
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada. | Han F | The International journal of neuroscience | 2016 | PMID: 26000814 |
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. | Alcalay RN | Brain : a journal of neurology | 2015 | PMID: 26117366 |
Functional analysis of 11 novel GBA alleles. | Malini E | European journal of human genetics : EJHG | 2014 | PMID: 24022302 |
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. | Duran R | Movement disorders : official journal of the Movement Disorder Society | 2013 | PMID: 23225227 |
Gaucher disease paradigm: from ERAD to comorbidity. | Bendikov-Bar I | Human mutation | 2012 | PMID: 22623374 |
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. | Pankratz N | Annals of neurology | 2012 | PMID: 22451204 |
Is E326K glucocerebrosidase a polymorphic or pathological variant? | Liou B | Molecular genetics and metabolism | 2012 | PMID: 22227325 |
The enigma of the E326K mutation in acid β-glucocerebrosidase. | Horowitz M | Molecular genetics and metabolism | 2011 | PMID: 21831682 |
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. | Lesage S | Human molecular genetics | 2011 | PMID: 20947659 |
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. | Bras J | Neurobiology of aging | 2009 | PMID: 18160183 |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | Liou B | The Journal of biological chemistry | 2006 | PMID: 16293621 |
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. | Chabás A | Blood cells, molecules & diseases | 2005 | PMID: 15967693 |
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. | Montfort M | Human mutation | 2004 | PMID: 15146461 |
Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. | Zhao H | Clinical genetics | 2003 | PMID: 12791040 |
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. | Park JK | Pediatric research | 2003 | PMID: 12595585 |
The E326K mutation and Gaucher disease: mutation or polymorphism? | Park JK | Clinical genetics | 2002 | PMID: 11903352 |
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. | Grace ME | The Journal of clinical investigation | 1999 | PMID: 10079102 |
Three unique base pair changes in a family with Gaucher disease. | Eyal N | Human genetics | 1991 | PMID: 1864608 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/143be5bb-7aa9-45a6-8b8c-eb13482c4659 | - | - | - | - |
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Text-mined citations for rs2230288 ...
HelpRecord last updated Aug 18, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.