ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)

dbSNP: rs11549935
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079218 SCV000111088 benign not specified 2013-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000079218 SCV000527564 benign not specified 2016-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872031 SCV001013781 benign Maple syrup urine disease 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872031 SCV001289326 benign Maple syrup urine disease 2017-05-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV002453398 SCV002613745 likely benign Inborn genetic diseases 2022-05-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001275906 SCV004562923 benign Maple syrup urine disease type 1A 2023-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716926 SCV005307426 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275906 SCV001461585 benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003925041 SCV004745063 likely benign BCKDHA-related disorder 2019-09-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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