ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)

dbSNP: rs2063174067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001779362 SCV002014699 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2021-10-25 criteria provided, single submitter clinical testing This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.839, 3Cnet: 0.958, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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