ClinVar Genomic variation as it relates to human health
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
Variation ID: 4311 Accession: VCV000004311.70
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 155235002 (GRCh38) [ NCBI UCSC ] 1: 155204793 (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 Apr 4, 2013 May 1, 2024 Jan 11, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000157.4:c.1604G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000148.2:p.Arg535His missense NM_001005741.3:c.1604G>A NP_001005741.1:p.Arg535His missense NM_001005742.2:c.1604G>A NM_001005742.3:c.1604G>A NP_001005742.1:p.Arg535His missense NM_001171811.2:c.1343G>A NP_001165282.1:p.Arg448His missense NM_001171812.2:c.1457G>A NP_001165283.1:p.Arg486His missense NC_000001.11:g.155235002C>T NC_000001.10:g.155204793C>T NG_009783.1:g.14696G>A NG_042867.1:g.1464C>T P04062:p.Arg535His - Protein change
- R535H, R486H, R448H
- Other names
- R496H
- Canonical SPDI
- NC_000001.11:155235001: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00018
Exome Aggregation Consortium (ExAC) 0.00031
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 |
29 | 386 | |
LOC106627981 | - | - | - |
GRCh38 GRCh38 |
- | 344 |
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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Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Oct 15, 2020 | RCV000004553.26 | |
Pathogenic (3) |
criteria provided, single submitter
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Jan 19, 2016 | RCV000020153.14 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV001004108.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 29, 2021 | RCV000762851.11 | |
Pathogenic/Likely pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 11, 2024 | RCV000790684.26 | |
Pathogenic (1) |
criteria provided, single submitter
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May 3, 2021 | RCV001836698.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 23, 2022 | RCV004018560.1 |
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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Pathogenic
(Jan 19, 2016)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697585.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
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Pathogenic
(Dec 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease type I
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000966890.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
The p.Arg535His (also known as p.Arg496His) variant in GBA has been reported in >20 compound heterozygous individuals (majority of Ashkenazi Jewish origin) with mild forms … (more)
The p.Arg535His (also known as p.Arg496His) variant in GBA has been reported in >20 compound heterozygous individuals (majority of Ashkenazi Jewish origin) with mild forms of Gaucher disease type I (Beutler 1993, Brautbar 2003, Yang 2017). This variant is considered a mild variant, with compound heterozygotes typically presenting as asymptomatic to mild, non-neurological cases (Brautbar 2003, Yang 2017). No homozygotes have been reported, and it is hypothesized that homozygot es may be asymptomatic. This variant was also identified in 0.25% (22/8934) of A shkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org) and in ClinVar (Variation ID# 4311). In vitro functional studies support an impact on p rotein function (Liou 2006, Choy 1996). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Gaucher disease. ACMG/AMP Criteria applied: PM3_Very Strong, PS3_Moderate, PS4_Moderate. (less)
Number of individuals with the variant: 1
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease type I
Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001162839.1
First in ClinVar: Feb 29, 2020 Last updated: Feb 29, 2020 |
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Pathogenic
(Dec 19, 2019)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease type I
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193813.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_001005741.2(GBA):c.1604G>A(R535H, aka R496H) is classified as pathogenic in the context of Gaucher disease and is associated with Type 1 form of disease. Sources cited for … (more)
NM_001005741.2(GBA):c.1604G>A(R535H, aka R496H) is classified as pathogenic in the context of Gaucher disease and is associated with Type 1 form of disease. Sources cited for classification include the following: PMID 25558695, 8213821, 16293621, 84325327, 12972024, 9240741 and 7916532. Classification of NM_001005741.2(GBA):c.1604G>A(R535H, aka R496H) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Jan 22, 2020)
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criteria provided, single submitter
Method: curation
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Gaucher disease type I
(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: SCV001422767.2
First in ClinVar: Jul 19, 2020 Last updated: Feb 05, 2022 |
Comment:
The p.Arg535His variant in GBA has been reported in at least 24 individuals with Gaucher Disease (PMID: 17059888, 24756352, 17427031, 20629126, 7655857, 28947706, 23430543, 8432537) … (more)
The p.Arg535His variant in GBA has been reported in at least 24 individuals with Gaucher Disease (PMID: 17059888, 24756352, 17427031, 20629126, 7655857, 28947706, 23430543, 8432537) and has been identified in 0.2% (22/8934) of Ashkenazi Jewish chromosomes and 0.011% (2/17404) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs75822236). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency taking into consideration that the carrier frequency of GBA variants is increased in the Ashkenazi Jewish population. This variant has also been reported in ClinVar (VariationID: 4311) as pathogenic by EGL Genetic Diagnostics, Knight Diagnostic Laboratories, Counsyl, Integrated Genetics, Fulgent Genetics, and OMIM. In vitro functional studies showing the variant to result in significantly reduced CRIM specific activity provide some evidence that the p.Arg535His variant may slightly impact protein function (PMID: 16293621). 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. However, the presence of this variant in one affected homozygote and in combination with reported pathogenic variants (VariationID: 4302, 4297, 4290, 4288; PMID: 23430543, 28947706, 20629126, 17059888, 8432537) in 9 individuals with Gaucher disease increases the likelihood that the p.Arg535His variant is pathogenic. The phenotype of an individual compound heterozygous for this variant is highly specific for Gaucher disease based on beta-glucosidase levels being below the diagnostic cutoff of 8.7nmol/h/mg protein consistent with disease (PMID: 20629126). One additional pathogenic variant, resulting in a different amino acid change at the same position, p.Arg535Cys, has been reported in association with disease in ClinVar and the literature, slightly supporting that a change at this position may not be tolerated (Variation ID: 242383; PMID: 27865684, 30637984, 30764785). In summary, this variant meets criteria to be classified as pathogenic for Gaucher disease in an autosomal recessive manner based on the presence of the variant in combination with other pathogenic variants in affected individual and the presence of another pathogenic variant at the same position. ACMG/AMP Criteria applied: PM3_very-strong, PM5, PM2_supporting, PP4, PS3_supporting (Richards 2015). (less)
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Pathogenic
(Oct 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease type I
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767896.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. 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 Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Gaucher disease (OMIM). (I) 0106 - This gene is associated with autosomal recessive disease. (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; 27735925). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2) (34 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (2 heterozygotes, 0 homozygotes). (I) 0504 - Same amino acid change has been observed in placental mammals. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant, also known as R496H in an alternative nomenclature, has been reported in at least 15 patients with Gaucher disease (GD) Type 1. It is often associated with a milder adult-onset GD clinical course, although some patients may experience symptoms during childhood (ClinVar; PMID: 27735925; 23430543). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Jul 23, 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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Revvity Omics, Revvity
Accession: SCV002024199.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jun 23, 2022)
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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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Ambry Genetics
Accession: SCV002755628.2
First in ClinVar: Dec 03, 2022 Last updated: May 01, 2024 |
Comment:
The p.R535H pathogenic mutation (also known as c.1604G>A and p.R496H), located in coding exon 11 of the GBA gene, results from a G to A … (more)
The p.R535H pathogenic mutation (also known as c.1604G>A and p.R496H), located in coding exon 11 of the GBA gene, results from a G to A substitution at nucleotide position 1604. The arginine at codon 535 is replaced by histidine, an amino acid with highly similar properties. In one study of 2,012 individuals screened for various autosomal recessive conditions, it was the third most common GBA alteration detected with a carrier frequency of 1 in 335 (Scott SA et al. Hum. Mutat. 2010; 31(11):1240-50). In addition, this variant has been detected on several alleles from individuals with Gaucher disease; however, specific phenotype information and/or additional mutation and phase information was not provided (Beutler E et al. Genomics 1993;15(1):203-5; Siebert M et al. JIMD Rep 2013 ; 9():7-16; Alfonso P et al. J. Hum. Genet. 2007; 52(5):391-6). This variant has also been detected in two individuals with Parkinson disease and Lewy body dementia (Chahine LM et al. JAMA Neurol 2013; 70(7):852-8; Nalls MA et al. JAMA Neurol 2013 ; 70(6):727-35). In another study which characterized basic kinetic, stability, and activator response properties of this alteration in an in vitro environment, authors concluded that this alteration has little, if any, in vitro catalytic activity (Liou B et al. J. Biol. Chem. 2006; 281(7):4242-53). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Feb 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Gaucher's disease, type 1
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV000223929.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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Pathogenic
(Apr 27, 2015)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000225538.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 30, 2019 |
Number of individuals with the variant: 3
Sex: mixed
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Pathogenic
(Jun 20, 2019)
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criteria provided, single submitter
Method: clinical testing
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Gaucher disease, type I
Affected status: yes
Allele origin:
germline
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Hadassah Hebrew University Medical Center
Accession: SCV001437673.1
First in ClinVar: Oct 10, 2020 Last updated: Oct 10, 2020 |
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Pathogenic
(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: SCV001652789.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
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Pathogenic
(Dec 11, 2019)
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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: SCV001803479.1
First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
Comment:
Published functional studies demonstrate that this variant had little or no catalytic activity (Liou et al., 2006); This variant is associated with the following publications: … (more)
Published functional studies demonstrate that this variant had little or no catalytic activity (Liou et al., 2006); This variant is associated with the following publications: (PMID: 33176831, 29471591, 31589614, 32985097, 32042592, 28966932, 29842932, 27735925, 23430543, 12972024, 8432537, 18434642, 26233692, 26857292, 16148263, 22935721, 16293621, 22975760, 23699752, 23588557) (less)
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Likely pathogenic
(Jun 10, 2021)
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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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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502715.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: yes
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Pathogenic
(Dec 29, 2021)
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criteria provided, single submitter
Method: clinical testing
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Lewy body dementia
Parkinson disease, late-onset Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease perinatal lethal
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893211.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 11, 2024)
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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: SCV000930789.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 535 of the GBA protein (p.Arg535His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 535 of the GBA protein (p.Arg535His). This variant is present in population databases (rs75822236, gnomAD 0.2%). This missense change has been observed in individual(s) with dementia with Lewy bodies, Gaucher disease, and/or Parkinson's disease (PMID: 8432537, 12972024, 23430543, 23588557, 23699752, 25933391, 27735925). This variant is also known as p.Arg496His or R496H. ClinVar contains an entry for this variant (Variation ID: 4311). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GBA protein function. Experimental studies have shown that this missense change affects GBA function (PMID: 16293621). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jun 15, 1993)
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no assertion criteria provided
Method: literature only
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GAUCHER DISEASE, TYPE I
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000024727.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017 |
Comment on evidence:
In 4 unrelated patients, 3 Jewish and 1 non-Jewish European, with type I Gaucher disease (230800), Beutler et al. (1993) identified a heterozygous 1604G-A transition … (more)
In 4 unrelated patients, 3 Jewish and 1 non-Jewish European, with type I Gaucher disease (230800), Beutler et al. (1993) identified a heterozygous 1604G-A transition (6683 in the genomic DNA sequence) in the GBA gene, resulting in an arg496-to-his (R496H) substitution. Age at diagnosis varied from 16 to 27 years. None had neurologic findings. Severity score varied from 2 to 9. The other mutation in 3 of the patients was that referred to as 84GG (606463.0014); the fourth patient, Jewish, had the common N370S mutation (606463.0003). (less)
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Pathogenic
(Mar 17, 2017)
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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: SCV002086445.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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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
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GeneReviews
Accession: SCV000040480.3
First in ClinVar: Apr 04, 2013 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 |
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. | Mor-Shaked H | European journal of human genetics : EJHG | 2021 | PMID: 33223529 |
The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling. | Zeid N | Molecular genetics and metabolism reports | 2020 | PMID: 32042592 |
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches. | Riboldi GM | Cells | 2019 | PMID: 31010158 |
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease. | Ruskey JA | European journal of medical genetics | 2019 | PMID: 29842932 |
Frequency of GBA variants in autopsy-proven multiple system atrophy. | Sklerov M | Movement disorders clinical practice | 2017 | PMID: 28966932 |
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies. | Gómez G | Journal of genetics | 2017 | PMID: 28947706 |
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. | Yang AC | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27735925 |
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. | Clark LN | PloS one | 2015 | PMID: 25933391 |
An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H. | Bronstein S | The Israel Medical Association journal : IMAJ | 2014 | PMID: 25558695 |
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations. | Chahine LM | JAMA neurology | 2013 | PMID: 23699752 |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. | Nalls MA | JAMA neurology | 2013 | PMID: 23588557 |
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. | Siebert M | JIMD reports | 2013 | PMID: 23430543 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. | Scott SA | Human mutation | 2010 | PMID: 20672374 |
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. | Saunders-Pullman R | Movement disorders : official journal of the Movement Disorder Society | 2010 | PMID: 20629126 |
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. | Alfonso P | Journal of human genetics | 2007 | PMID: 17427031 |
Detection of 12 new mutations in Gaucher disease Brazilian patients. | Rozenberg R | Blood cells, molecules & diseases | 2006 | PMID: 17059888 |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | Liou B | The Journal of biological chemistry | 2006 | PMID: 16293621 |
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. | Brautbar A | Blood cells, molecules & diseases | 2003 | PMID: 12972024 |
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. | Choy FY | American journal of medical genetics | 1996 | PMID: 9240741 |
Five new Gaucher disease mutations. | Beutler E | Blood cells, molecules & diseases | 1995 | PMID: 7655857 |
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. | Choy FY | American journal of medical genetics | 1994 | PMID: 7916532 |
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. | Beutler E | Proceedings of the National Academy of Sciences of the United States of America | 1993 | PMID: 8516282 |
Identification of six new Gaucher disease mutations. | Beutler E | Genomics | 1993 | PMID: 8432537 |
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. | Horowitz M | American journal of human genetics | 1993 | PMID: 8213821 |
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. | Kawame H | Human genetics | 1992 | PMID: 1487244 |
- | - | - | - | PMID: 84325327 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/3b003805-7d99-4946-bc41-2f4ffc71d0aa | - | - | - | - |
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Text-mined citations for rs75822236 ...
HelpRecord last updated Jul 07, 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.