ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)

gnomAD frequency: 0.00008  dbSNP: rs144967854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495486 SCV001700168 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2024-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563299 SCV003678970 likely benign Inborn genetic diseases 2022-06-24 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.

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