Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Reproductive Genetics, |
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, |
RCV003132524 | SCV003814150 | uncertain significance | not provided | 2022-02-26 | criteria provided, single submitter | clinical testing | |
Institute of Reproductive Genetics, |
RCV003984020 | SCV004800811 | likely pathogenic | Male infertility | 2024-01-16 | criteria provided, single submitter | research | |
Center for Genomic Medicine, |
RCV003989700 | SCV004806784 | uncertain significance | 46,XY sex reversal 3 | 2024-03-26 | criteria provided, single submitter | clinical testing |