ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) (rs137853259)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196576 SCV000252030 pathogenic not provided 2015-11-02 criteria provided, single submitter clinical testing p.Arg263Gly (CGA>GGA): c.787 C>G in exon 8 of the PDHA1 gene (NM_000284.3). The R263G missense mutation in the PDHA1 gene has been reported multiple times in association with pyruvate dehydrogenase deficiency (Chun et al., 1995; Lissens et al., 2000). The variant is found in LSME-MITOP panel(s).
Institute of Human Genetics,Klinikum rechts der Isar RCV000011625 SCV001150199 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-05-20 criteria provided, single submitter clinical testing
OMIM RCV000011625 SCV000031857 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 1997-08-01 no assertion criteria provided literature only

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