ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.693G>A (p.Thr231=)

gnomAD frequency: 0.00005  dbSNP: rs138237215
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437837 SCV000521557 likely benign not specified 2017-09-08 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.
Ambry Genetics RCV002318413 SCV000850703 likely benign Inborn genetic diseases 2017-05-31 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.
Invitae RCV000916825 SCV001062079 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437177 SCV004166690 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PDHA1: BP4, BP7, BS2
Natera, Inc. RCV001828410 SCV002076928 likely benign Pyruvate dehydrogenase complex deficiency 2019-12-13 no assertion criteria provided clinical testing

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