ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001265577 SCV001443741 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2020-02-04 criteria provided, single submitter clinical testing This frameshifting variant in exon 11 of 12 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.1032_1041dup (p.Val348AsnfsTer7) variant is classified as Likely Pathogenic.

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