ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550845 SCV001771240 pathogenic not provided 2020-11-03 criteria provided, single submitter clinical testing Identified in patients with pyruvate dehydrogenase deficiency in the published literature (Ridout et al., 2008; Sato et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20958858, 25525159, 18709504)
Suma Genomics RCV001638161 SCV001847718 pathogenic Pyruvate dehydrogenase E1-alpha deficiency criteria provided, single submitter clinical testing

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