ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.863G>A (p.Arg288His) (rs137853258)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000011637 SCV001443728 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-11-01 criteria provided, single submitter clinical testing This variant (also referred to as p.Arg288His) has been previously reported as a heterozygous change in a similarly affected female with pyruvate dehydrogenase deficiency and skewed X-inactivation within fibroblasts (PMID: 10486093). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.977G>A (p.Arg326His) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function.Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.977G>A (p.Arg326His) variant is classified as Pathogenic.
OMIM RCV000011637 SCV000031869 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 1999-10-01 no assertion criteria provided literature only

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