ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)

dbSNP: rs2063192428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286846 SCV002577041 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34758253)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001542510 SCV004808244 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2024-03-29 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542510 SCV001760509 pathogenic Pyruvate dehydrogenase E1-alpha deficiency no assertion criteria provided clinical testing

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