ClinVar Genomic variation as it relates to human health
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
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_000108.5(DLD):c.685G>T (p.Gly229Cys)
Variation ID: 11966 Accession: VCV000011966.59
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 107915506 (GRCh38) [ NCBI UCSC ] 7: 107555951 (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 Jul 12, 2015 Aug 25, 2024 Mar 27, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000108.5:c.685G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000099.2:p.Gly229Cys missense NM_001289750.1:c.388G>T NP_001276679.1:p.Gly130Cys missense NM_001289751.1:c.616G>T NP_001276680.1:p.Gly206Cys missense NM_001289752.1:c.541G>T NP_001276681.1:p.Gly181Cys missense NC_000007.14:g.107915506G>T NC_000007.13:g.107555951G>T NG_008045.1:g.29366G>T P09622:p.Gly229Cys - Protein change
- G229C, G181C, G130C, G206C
- Other names
- p.G229C:GGT>TGT
- Canonical SPDI
- NC_000007.14:107915505:G: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) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00017
Exome Aggregation Consortium (ExAC) 0.00026
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
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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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DLD | - | - |
GRCh38 GRCh37 |
635 | 671 |
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 (15) |
criteria provided, multiple submitters, no conflicts
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Mar 27, 2024 | RCV000012744.50 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 23, 2020 | RCV000185853.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 7, 2014 | RCV000624277.10 | |
DLD-related disorder
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Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 5, 2022 | RCV004528103.2 |
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
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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DLD-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000466235.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
Across a selection of available literature, the DLD c.685G>T (p.Gly229Cys) missense variant has been identified in a total of 27 patients with dihydrolipoamide dehydrogenase deficiency … (more)
Across a selection of available literature, the DLD c.685G>T (p.Gly229Cys) missense variant has been identified in a total of 27 patients with dihydrolipoamide dehydrogenase deficiency (also known as maple syrup urine disease type III), including 22 in a homozygous state, four in a compound heterozygous state, and one in a heterozygous state in whom a second variant was not identified (Shaag et al. 1999; Brassier et al. 2013; Haviv et al. 2014). The p.Gly229Cys variant was also identified in a heterozygous state in five unaffected family members. Control data are not available for this variant, which is reported at a frequency of 0.00042 in the European (non-Finnish) population of the Exome Aggregation Consortium. The p.Gly229Cys variant is located in the NAD+ binding domain of the protein. Functional studies using biochemical and biophysical analyses demonstrated that the variant increases the generation of reactive oxygen species compared to the wild type enzyme (Ambrus et al. 2011). Based on the evidence, the p.Gly229Cys variant is classified as pathogenic for DLD-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Jan 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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None
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002061158.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
Comment:
The c.685G>T;p.(Gly229Cys) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 11966; PMID: 21930696; 23478190; 21558426; … (more)
The c.685G>T;p.(Gly229Cys) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 11966; PMID: 21930696; 23478190; 21558426; OMIM: 238331.0006) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 23478190, 21558426, 21930696) - PS3_moderate. The variant is located in a mutational hot spot and/or critical and well-established functional domain (NAD + binding) - PM1. The variant is present at low allele frequencies population databases (rs121964990– gnomAD 0.001776%; ABraOM 0.000427 frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Gly229Cys) was detected in trans with a pathogenic variant (PMID: 23995961) - PM3. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: female
Geographic origin: Brazil
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Pathogenic
(Jan 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893733.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(Mar 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002020383.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000820574.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 229 of the DLD protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 229 of the DLD protein (p.Gly229Cys). This variant is present in population databases (rs121964990, gnomAD 0.6%). This missense change has been observed in individuals with dihydrolipoamide dehydrogenase deficiency (PMID: 21558426, 21930696, 23478190). It has also been observed to segregate with disease in related individuals. This variant is also known as Gly194Cys. ClinVar contains an entry for this variant (Variation ID: 11966). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects DLD function (PMID: 21558426, 21930696). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: curation
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Pyruvate dehydrogenase E3 deficiency
Affected status: no
Allele origin:
germline
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV005051752.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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Pathogenic
(Dec 15, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000511508.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Oct 27, 2016)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695410.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Comment:
Variant summary: The DLD c.685G>T (p.Gly229Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant … (more)
Variant summary: The DLD c.685G>T (p.Gly229Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 32/121202 control chromosomes (1 homozygote) at a frequency of 0.000264, which does not exceed the estimated maximal expected allele frequency of a pathogenic DLD variant (0.005). The variant has been reported in numerous affected individuals in the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 18, 2019)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001194203.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000108.3(DLD):c.685G>T(G229C, aka G194C) is classified as pathogenic in the context of dihydrolipoamide dehydrogenase deficiency. Sources cited for classification include the following: PMIDs: 16601893, 14765544, 23995961, … (more)
NM_000108.3(DLD):c.685G>T(G229C, aka G194C) is classified as pathogenic in the context of dihydrolipoamide dehydrogenase deficiency. Sources cited for classification include the following: PMIDs: 16601893, 14765544, 23995961, 21930696, 21558426, 9934985. Classification of NM_000108.3(DLD):c.685G>T(G229C, aka G194C) 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
(-)
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criteria provided, single submitter
Method: clinical testing
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Dihydrolipoamide dehydrogenase deficiency
Affected status: yes
Allele origin:
germline
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Centogene AG - the Rare Disease Company
Accession: SCV001424402.1
First in ClinVar: Jul 27, 2020 Last updated: Jul 27, 2020 |
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446673.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Acute liver failure (present) , Liver failure (present)
Sex: male
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Pathogenic
(Jan 27, 2020)
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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: SCV000238804.11
First in ClinVar: Jul 18, 2015 Last updated: Apr 17, 2019 |
Comment:
Reported carrier frequency of 1 in 94 in the Ashkenazi Jewish population (Shaag et al., 1999); Functional studies of the G229C variant showed a decrease … (more)
Reported carrier frequency of 1 in 94 in the Ashkenazi Jewish population (Shaag et al., 1999); Functional studies of the G229C variant showed a decrease in the mitochondrial respiratory function relative to wild-type (Vaubel et al., 2011); In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 24012808, 25333069, 25885067, 9934985, 20672374, 17404228, 10448086, 8968745, 30487145, 21558426, 21930696, 25356417, 23995961, 27544700, 16601893, 14765544, 24516753, 16770810, 15712224, 12925875, 9764998, 30264509, 23290025, 23478190, 31334547, 31980526, 31589614, 33083013) (less)
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Pathogenic
(Sep 07, 2014)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV000741904.3
First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023 |
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Nausea (present) , Vomiting (present) , Fever (present) , Hypoglycemia (present) , Acute hepatic failure (present) , Hepatomegaly (present) , Growth delay (present)
Sex: male
Ethnicity/Population group: Ashkenazi Jewish
Observation 2:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Caucasian/Polish/German/Irish/Italian/French Canadian Indian/Native American
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Pathogenic
(Mar 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806081.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Mar 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004193949.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Apr 12, 2020)
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criteria provided, single submitter
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: yes
Allele origin:
germline
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Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005088828.2
First in ClinVar: Aug 04, 2024 Last updated: Aug 25, 2024 |
Comment:
This variant was previously reported in patients with dihydrolipoamide dehydrogenase (DLD or E3) deficiency in homozygous and compound heterozygous state. In addition, this variant was … (more)
This variant was previously reported in patients with dihydrolipoamide dehydrogenase (DLD or E3) deficiency in homozygous and compound heterozygous state. In addition, this variant was also identified in a heterozygous state without a second variant [PMID's: 9934985, 23478190, 23995961] and reported as disease causing mutation located in NAD+ binding domain [PMID: 23478190]. This variant in the DLD gene has been reported with a carrier frequency of 1 in 94 in the Ashkenazi Jewish population [PMID: 9934985]. Functional studies on this variant p.Gly229Cys (represented as G194C) have shown to impairs DLD function and results in increased reactive oxygen species (ROS) generation in vitro and in yeast [PMID: 21558426, 21930696]. (less)
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Pathogenic
(Apr 02, 2014)
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no assertion criteria provided
Method: literature only
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Maple syrup urine disease, type 3
Affected status: yes
Allele origin:
germline
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GeneReviews
Accession: SCV000148070.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Ethnicity/Population group: Common in the Ashkenazi Jewish population. Carrier frequency is estimated to be 1:94.
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Pathogenic
(Jun 04, 2018)
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no assertion criteria provided
Method: clinical testing
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Pyruvate dehydrogenase E3 deficiency
Affected status: yes
Allele origin:
germline
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Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
Accession: SCV000854707.1
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
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Pathogenic
(Aug 01, 2011)
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no assertion criteria provided
Method: literature only
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DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000032979.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 12, 2015 |
Comment on evidence:
In a series of 7 Ashkenazi Jewish families with dihydrolipoyl dehydrogenase deficiency (DLDD; 246900), Shaag et al. (1999) identified a mutation in the DLD gene … (more)
In a series of 7 Ashkenazi Jewish families with dihydrolipoyl dehydrogenase deficiency (DLDD; 246900), Shaag et al. (1999) identified a mutation in the DLD gene resulting in a gly229-to-cys (G229C) substitution at a highly conserved residue in the NAD(+)-binding domain. The G229C mutation accounted for 12 of 14 mutant alleles. G229C corresponds to G194C in the mature protein (Odievre et al., 2005). In a sample of 845 anonymous individuals of Ashkenazi Jewish origin, 9 heterozygotes for the G194C mutation were identified, yielding a carrier rate of 1:94. The other 2 alleles in the series had a previously identified insertion mutation (238331.0003). The disease course and age at onset were highly variable. Some patients had few neurologic sequelae and long survival. Two patients presented immediately after birth, 9 around age 2 years, and 2 as adults. All had recurrent episodes of vomiting, abdominal pain, and hepatomegaly, usually associated with neurologic signs during the episodes. Episodes were associated with lactic acidosis, abnormal liver enzymes, and prolonged prothrombin time. Biochemical anomalies, such as increased branched-chain amino acids and increased alpha-ketoacids were not commonly found. The 2 patients who presented neonatally had residual neurologic damage with attention deficit-hyperactivity disorder, mild ataxia, motor incoordination, muscle hypotonia, and weakness. Nine patients who presented in early childhood or as adults suffered from exertional fatigue between episodes of decompensation but were otherwise asymptomatic and showed normal psychomotor development. Two patients died because of intractable metabolic acidosis and multiorgan failure. In all patients, E3 activity was reduced to 8 to 21% of the control value in muscle or lymphocytes. In 4 patients tested, the E3 protein in muscle was reduced to 20 to 60% of control. Hong et al. (2003) reported 2 sibs, born of consanguineous Palestinian Arab Muslim parents, with E3 deficiency due to homozygosity for the G194C mutation. A girl died in infancy during an episode of repeated vomiting associated with encephalopathy. Two previous sibs had died under similar circumstances. A brother had recurrent episodes of vomiting associated with encephalopathy from age 8 months. Examination at age 10 years showed generalized muscle weakness and wasting, ataxic gait, hepatomegaly, and lactic acidemia. He was treated with riboflavin, coenzyme Q, biotin, and carnitine. Six years later, he was functioning well at a normal school, but had slight ataxia and intention tremor. Two additional patients, both of Ashkenazi Jewish descent, had a severe form of E3 deficiency and the G194C mutation. One had repeated episodes of hypoglycemia and was in a persistent vegetative state at age 4 years; he died soon after. A girl had recurrent episodes of repeated vomiting and acidosis since infancy; she died of hepatic failure at age 5 years. All patients had decreased levels of the E3 protein (range, 35-68% of controls) and decreased E3 activity (8-33% of controls). Hong et al. (2003) emphasized the favorable outcome in the 1 child treated with riboflavin and additional supplements. By in vitro functional expression studies, Ambrus et al. (2011) found that the G194C mutant protein caused no significant changes in LADH activity but did result in significantly increased generation of reactive oxygen species. (less)
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Pathogenic
(Jan 06, 2020)
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no assertion criteria provided
Method: curation
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Dihydrolipoamide dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
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Reproductive Health Research and Development, BGI Genomics
Accession: SCV001142375.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
Comment:
NM_000108.3:c.685G>T in the DLD gene has an allele frequency of 0.007 in Ashkenazi Jewish subpopulation in the gnomAD database. Haviv R et al. reported that … (more)
NM_000108.3:c.685G>T in the DLD gene has an allele frequency of 0.007 in Ashkenazi Jewish subpopulation in the gnomAD database. Haviv R et al. reported that eight of 15 studied patients with dihydrolipoamide dehydrogenase deficiency were homozygous for the common G229C mutation and two were compound heterozygous for the G229C and Y35X mutations (PMID: 23995961). Functional studies using biochemical and biophysical analyses demonstrated that the variant increases the generation of reactive oxygen species compared to the wild type enzyme (PMID: 21558426). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PM3_Strong; PS3; PP4. (less)
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Maple syrup urine disease type 3
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001464055.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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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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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. | Al-Shamsi A | Sultan Qaboos University medical journal | 2014 | PMID: 24516753 |
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. | Haviv R | European journal of pediatrics | 2014 | PMID: 23995961 |
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. | Brassier A | Molecular genetics and metabolism | 2013 | PMID: 23478190 |
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. | Quinonez SC | Pediatric neurology | 2013 | PMID: 23290025 |
Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. | Vaubel RA | The Journal of biological chemistry | 2011 | PMID: 21930696 |
Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. | Ambrus A | Human molecular genetics | 2011 | PMID: 21558426 |
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. | Scott SA | Human mutation | 2010 | PMID: 20672374 |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. | Laredo R | Revista espanola de cardiologia | 2006 | PMID: 17125710 |
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. | Cameron JM | American journal of medical genetics. Part A | 2006 | PMID: 16770810 |
Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. | Sansaricq C | Journal of inherited metabolic disease | 2006 | PMID: 16601893 |
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. | Odièvre MH | Human mutation | 2005 | PMID: 15712224 |
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy. | Hong YS | Journal of inherited metabolic disease | 2003 | PMID: 14765544 |
Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. | Moolman-Smook J | Journal of medical genetics | 2000 | PMID: 11186938 |
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. | Shaag A | American journal of medical genetics | 1999 | PMID: 9934985 |
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Text-mined citations for rs121964990 ...
HelpRecord last updated Aug 25, 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.