ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)

gnomAD frequency: 0.00001  dbSNP: rs749224036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382844 SCV001581791 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing Loss-of-function variants in AKR1D1 are known to be pathogenic (PMID: 12970144, 19175828, 20522910, 21185810, 23679950). This variant has been reported in an individual affected with neonatal liver failure (PMID: 19175828). This gene is also known as SRD5B1 in the literature. This variant is present in population databases (rs749224036, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Arg50*) in the AKR1D1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003227972 SCV003924282 pathogenic Congenital bile acid synthesis defect 2 2023-05-08 criteria provided, single submitter research

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