ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

gnomAD frequency: 0.00077  dbSNP: rs141862527
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725565 SCV000337839 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000725565 SCV000715890 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Invitae RCV001088476 SCV001054808 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338844 SCV002644125 likely benign Inborn genetic diseases 2018-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003920086 SCV004731804 likely benign PDHA1-related condition 2023-09-01 criteria provided, single submitter 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).
Natera, Inc. RCV001835752 SCV002076925 likely benign Pyruvate dehydrogenase complex deficiency 2019-10-24 no assertion criteria provided clinical testing

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