ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)

gnomAD frequency: 0.00004  dbSNP: rs267606650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798717 SCV005420808 likely pathogenic Congenital bile acid synthesis defect 2024-10-04 criteria provided, single submitter research PS3,PM2,PP3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000005709 SCV005422519 pathogenic Congenital bile acid synthesis defect 2 2024-10-09 criteria provided, single submitter clinical testing Variant summary: AKR1D1 c.781C>T (p.Arg261Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251400 control chromosomes (gnomAD). c.781C>T has been reported in the literature in individuals affected with Congenital bile acid synthesis defect 2 (e.g. Gonzales_2004, Seki_2013). 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, finding that the variant results in sharpy reduced enzymatic activity (Drury_2010). The following publications have been ascertained in the context of this evaluation (PMID: 15030995, 20522910, 23160874). ClinVar contains an entry for this variant (Variation ID: 5378). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000005709 SCV000025891 pathogenic Congenital bile acid synthesis defect 2 2004-04-01 no assertion criteria provided literature only

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