ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.572del (p.Arg191fs)

dbSNP: rs2131286914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389645 SCV001591078 pathogenic Oligosynaptic infertility; 46,XY disorder of sex development 2018-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg191Leufs*105) in the NR5A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NR5A1 are known to be pathogenic (PMID: 10369247, 11038323, 12907682, 19246354, 20887963). This variant has not been reported in the literature in individuals with NR5A1-related disease.

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