ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) (rs863224148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505722 SCV000252036 pathogenic not provided 2021-08-28 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 10679936, 8664900, 15384102, 21914562, 20002125, 15473177, 7887409, 1301207, 25590979)
Ambry Genetics RCV000624128 SCV000742478 likely pathogenic Inborn genetic diseases 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV000692713 SCV000820551 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 72 of the PDHA1 protein (p.Arg72Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in males affected with pyruvate dehydrogenase E1-alpha deficiency (PMID: 1301207, 7887409, 10679936, 20002125, 25590979). Fibroblasts isolated from affected males with this variant have reduced pyruvate dehydrogenase complex activity (PMID: 1301207, 10679936). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000505722 SCV001247268 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing

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