ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)

dbSNP: rs28935769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000014076 SCV005380588 likely pathogenic Pyruvate dehydrogenase E1-beta deficiency 2024-08-19 criteria provided, single submitter clinical testing Variant summary: PDHB c.395A>G (p.Tyr132Cys) results in a non-conservative amino acid change located in the Transketolase-like, pyrimidine-binding domain (IPR005475) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251494 control chromosomes. c.395A>G has been reported in the literature in individuals affected with Pyruvate Dehydrogenase E1-Beta Deficiency (examples:Brown_2004,Okajima_2008). These data indicate that the variant is likely to be associated with disease . At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 16% of normal activity (Okajima_2008). The following publications have been ascertained in the context of this evaluation (PMID: 15138885, 18164639). ClinVar contains an entry for this variant (Variation ID: 13188). Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000014076 SCV000034323 pathogenic Pyruvate dehydrogenase E1-beta deficiency 2004-07-01 no assertion criteria provided literature only

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