Total submissions: 2
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, |
RCV003227972 | SCV003924282 | pathogenic | Congenital bile acid synthesis defect 2 | 2023-05-08 | criteria provided, single submitter | research |