ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)

dbSNP: rs762505127
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704633 SCV000570835 likely benign not provided 2022-10-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV000481535 SCV000596386 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000887200 SCV001030746 benign Pyruvate dehydrogenase E1-alpha deficiency 2023-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704633 SCV004698563 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PDHA1: BS2
Ambry Genetics RCV004023155 SCV005003717 likely benign Inborn genetic diseases 2021-12-10 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. RCV001834564 SCV002076941 likely benign Pyruvate dehydrogenase complex deficiency 2020-03-26 no assertion criteria provided clinical testing

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