ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) (rs121434246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003504 SCV001376063 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2019-06-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 115 of the SRD5A2 protein (p.Gly115Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs121434246, ExAC 0.05%). This variant has been observed to be homozygous and in combination with other SRD5A2 variants in individuals affected with steroid-5 alpha-reductase deficiency (PMID: 21147889, 1522235, 8626825, 24885102, 10718838, 15528927, 20019388). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3340). This variant has been reported to affect SRD5A2 protein function (PMID: 8110760, 18350250). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003504 SCV000023662 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1996-05-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003504 SCV000692384 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-06-12 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.