ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu)

gnomAD frequency: 0.00095  dbSNP: rs200749741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551809 SCV001772394 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20887963, 23543655, 32242295, 31787151)
Labcorp Genetics (formerly Invitae), Labcorp RCV003105833 SCV003783350 likely benign Oligosynaptic infertility; 46,XY disorder of sex development 2025-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977699 SCV004790170 likely benign NR5A1-related disorder 2022-02-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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