ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)

gnomAD frequency: 0.00001  dbSNP: rs147510382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937027 SCV001082801 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409231 SCV002711090 likely benign Inborn genetic diseases 2019-10-23 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.
Natera, Inc. RCV001826976 SCV002076940 likely benign Pyruvate dehydrogenase complex deficiency 2020-08-28 no assertion criteria provided clinical testing

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