ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)

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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 RCV003792503 SCV004588730 pathogenic Oligosynaptic infertility; 46,XY disorder of sex development 2022-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This missense change has been observed in individual(s) with clinical features of NR5A1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 79 of the NR5A1 protein (p.Arg79Pro).

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