ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter) (rs863224146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196688 SCV000252033 pathogenic not provided 2014-04-24 criteria provided, single submitter clinical testing p.Arg304Stop (CGA>TGA): c.910 C>T in exon 10 of the PDHA1 gene (NM_000284.3) The R304X nonsense mutation in the PDHA1 gene has been reported previously in association with pyruvate dehydrogenase complex deficiency (PDHc) (Imbard et al., 2011). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Males with a disease-associated mutation in the PDHA1 gene typically present with severe neonatal lactic acidosis while the presentation in females is more variable and is dependent upon the pattern of X-inactivation. The variant is found in LAPDH-MITOP panel(s).
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760291 SCV000890132 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2015-10-22 criteria provided, single submitter clinical testing

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