ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.984T>C (p.Asn328=)

gnomAD frequency: 0.00010  dbSNP: rs767503319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194225 SCV000248505 uncertain significance not specified 2014-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000899471 SCV001043742 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381655 SCV002689325 likely benign Inborn genetic diseases 2017-09-06 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.
Natera, Inc. RCV001833137 SCV002076939 likely benign Pyruvate dehydrogenase complex deficiency 2019-10-28 no assertion criteria provided clinical testing

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