ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)

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
Institute of Human Genetics, University of Goettingen RCV002509643 SCV002817383 likely pathogenic Premature ovarian failure 7 2023-01-03 criteria provided, single submitter clinical testing
Invitae RCV002537605 SCV003026220 uncertain significance Oligosynaptic infertility; 46,XY disorder of sex development 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 355 of the NR5A1 protein (p.Val355Met). This variant is present in population databases (rs371701248, gnomAD 0.03%). This missense change has been observed in individual(s) with anorchia or idiopathic oligozoospermia (PMID: 17940071, 32655042). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on NR5A1 function (PMID: 17940071, 30067310). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Reproductive Genetics, University of Münster RCV003983865 SCV004800827 likely pathogenic Male infertility 2024-01-16 criteria provided, single submitter research

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.