Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000003508 | SCV000597253 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000003508 | SCV000631432 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 228 of the SRD5A2 protein (p.Ala228Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with 5α-reductase-2 deficiency (PMID: 8723114, 8784107, 9843052, 23633205; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3344). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SRD5A2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Clinical Molecular Genetics Laboratory, |
RCV000003508 | SCV000692399 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2017-09-08 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Laboratory, |
RCV000003508 | SCV000890889 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Clinical Genetics and Genomics, |
RCV001270015 | SCV001450434 | pathogenic | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001270015 | SCV001810979 | pathogenic | not provided | 2020-11-27 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 8789759, 8723114, 23633205, 9843052, 8784107, 30269266) |
OMIM | RCV000003508 | SCV000023666 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1998-11-16 | no assertion criteria provided | literature only |