ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)

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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 RCV003796919 SCV004585484 uncertain significance Oligosynaptic infertility; 46,XY disorder of sex development 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the NR5A1 protein (p.Gly22Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of NR5A1-related conditions (PMID: 32008008; Invitae). 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 expected to disrupt NR5A1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects NR5A1 function (PMID: 32008008). 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.

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