ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)

gnomAD frequency: 0.00006  dbSNP: rs780568525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive Genetics, University of Münster RCV001648494 SCV001860300 likely pathogenic Non-obstructive azoospermia 2022-03-16 criteria provided, single submitter research
MGZ Medical Genetics Center RCV002290735 SCV002579662 likely pathogenic Spermatogenic failure 8 2021-11-30 criteria provided, single submitter clinical testing
Invitae RCV002538522 SCV003309555 uncertain significance Oligosynaptic infertility; 46,XY disorder of sex development 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 238 of the NR5A1 protein (p.Asp238Asn). This variant is present in population databases (rs780568525, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of spermatogenic failure (PMID: 20887963, 25989977, 35690514). ClinVar contains an entry for this variant (Variation ID: 1244229). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NR5A1 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects NR5A1 function (PMID: 20887963, 25989977). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003132524 SCV003814150 uncertain significance not provided 2022-02-26 criteria provided, single submitter clinical testing
Institute of Reproductive Genetics, University of Münster RCV003984020 SCV004800811 likely pathogenic Male infertility 2024-01-16 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989700 SCV004806784 uncertain significance 46,XY sex reversal 3 2024-03-26 criteria provided, single submitter clinical testing

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