ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) (rs137853254)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000011629 SCV001367449 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-12-04 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. This variant was detected in hemizygous state.
OMIM RCV000011629 SCV000031861 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2002-10-09 no assertion criteria provided literature only
Institute of Human Genetics, Klinikum rechts der Isar RCV000011629 SCV000680326 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-12-09 no assertion criteria provided clinical testing

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