ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) (rs121434249)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000003508 SCV000597253 likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-04-08 criteria provided, single submitter clinical testing
Invitae RCV000003508 SCV000631432 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 228 of the SRD5A2 protein (p.Ala228Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous or in combination with another SRD5A2 variant in individuals affected with 5α-reductase-2 deficiency (PMID: 8723114, 8784107, 9843052, 23633205, Invitae). ClinVar contains an entry for this variant (Variation ID: 3344). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003508 SCV000692399 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-09-08 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000003508 SCV000890889 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-09-14 criteria provided, single submitter clinical testing
OMIM RCV000003508 SCV000023666 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1998-11-16 no assertion criteria provided literature only

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.