ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)

dbSNP: rs1057517779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413900 SCV000490673 pathogenic not provided 2022-08-16 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced transactivation activity on CYP11A1 and CYP17A1 promoters (Allali et al., 2011; Malikova et al., 2014); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25122490, 27169744, 30425642, 30067310, 25383892, 32369823, 22028768)
Genetic Services Laboratory, University of Chicago RCV000504282 SCV000596055 likely pathogenic 46,XY sex reversal 3 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV002230747 SCV000829797 pathogenic Oligosynaptic infertility; 46,XY disorder of sex development 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 313 of the NR5A1 protein (p.Arg313Cys). 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. ClinVar contains an entry for this variant (Variation ID: 372437). This missense change has been observed in individual(s) with autosomal dominant disorders of sex development (DSD) (PMID: 25122490, 27169744, 30425642). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NR5A1 function (PMID: 22028768, 25122490, 27169744).
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001662366 SCV001877156 likely pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided research

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