ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)

gnomAD frequency: 0.00098  dbSNP: rs200163795
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582796 SCV001821204 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23543655, 32242295, 20887963, 31787151)
Mendelics RCV002247684 SCV002518399 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105834 SCV003783351 likely benign Oligosynaptic infertility; 46,XY disorder of sex development 2025-01-16 criteria provided, single submitter clinical testing
Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Cheikh Anta Diop University RCV003454713 SCV004176296 pathogenic Spermatogenic failure 8 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003967675 SCV004784872 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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