ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)

gnomAD frequency: 0.00001  dbSNP: rs1832458239
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
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001726609 SCV001961002 likely pathogenic 46,XY sex reversal 3 criteria provided, single submitter clinical testing
GeneDx RCV004699442 SCV005201389 pathogenic not provided 2024-02-07 criteria provided, single submitter clinical testing Published in vitro functional studies demonstrate decreased DNA binding and transactivation activity (PMID: 17656604); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36617173, 26362256, Gaisl12019[Poster], 35729303, 36793102, 24434652, 17656604, 30103258, 33202802, 17694559)
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001661771 SCV001877135 likely pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided 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.