ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)

gnomAD frequency: 0.00001  dbSNP: rs761824859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591351 SCV001816764 pathogenic not provided 2019-11-20 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 31219235, 31031332, 23729601, 27051040, 20736251, 28663096, 27849622, 18314109)
Labcorp Genetics (formerly Invitae), Labcorp RCV000583658 SCV004292412 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-04-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 20 of the SRD5A2 protein (p.Leu20Pro). This variant is present in population databases (rs761824859, gnomAD 0.006%). This missense change has been observed in individual(s) with steroid-5 alpha-reductase deficiency (PMID: 18314109, 31219235, 32596280). 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: 492895). 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 not expected to disrupt SRD5A2 protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000583658 SCV005049908 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-02-29 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583658 SCV000692377 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-12-05 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.