ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) (rs1553323488)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540681 SCV000631433 likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-02-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 228 of the SRD5A2 protein (p.Ala228Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with steroid 5 alpha-reductase 2 deficiency (PMID: 20736251, 24665940). 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 C15"). In summary, this variant is a rare missense change that has been observed in multiple affected individuals. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.