ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) (rs863224153)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198854 SCV000252043 pathogenic not provided 2013-09-09 criteria provided, single submitter clinical testing The c.936_939delTAAG mutation in the PDHA1 gene has been reported previously in association with pyruvate dehydrogenase complex deficiency (PDHc) (Lissens et al., 1995). The deletion causes a frameshift starting with codon Serine 312, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ser312ArgfsX13. This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in PDHA1 panel(s).
Institute of Human Genetics, Klinikum rechts der Isar RCV001254096 SCV001430021 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-01-10 criteria provided, single submitter clinical testing
Genomics England Pilot Project,Genomics England RCV001254096 SCV001760510 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency no assertion criteria provided clinical testing

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