ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)

dbSNP: rs2147176072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775392 SCV002012247 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2021-10-02 criteria provided, single submitter clinical testing The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.943, 3Cnet: 0.974, PP3). Patient's phenotype is considered compatible with Pyruvate Dehydrogenase E1-Alpha Dedicienct (3billion dataset, PP4). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697139 SCV005197118 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
GeneDx RCV004697139 SCV005627043 pathogenic not provided 2024-07-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21914562, 32901917, 35943828, Ito2013[abstract], 25356417, 37270787)

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