ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)

dbSNP: rs121434245
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
Invitae RCV000003503 SCV000631419 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-05-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with  glutamine at codon 55 of the SRD5A2 protein (p.Leu55Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is not present in population databases (rs121434245, ExAC no frequency). This variant has been reported as homozygous in many individuals affected with SRD5A2-related disease, and was shown to segregate with disease in an affected family (PMID: 20850730, 8768837, 1522235, 12008688) Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change that has been clearly associated with 5-alpha reductase deficiency in affected individuals. Therefore, it has been classified as Pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269601 SCV001449697 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001813943 SCV001755444 likely pathogenic Abnormality of the genitourinary system 2021-07-10 criteria provided, single submitter clinical testing
OMIM RCV000003503 SCV000023661 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1996-08-01 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.