Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686264 | SCV000813775 | uncertain significance | Fanconi anemia complementation group O | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 286 of the RAD51C protein (p.Met286Val). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 566453). 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 RAD51C protein function. 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. |
Ambry Genetics | RCV001018009 | SCV001179185 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-11 | criteria provided, single submitter | clinical testing | The p.M286V variant (also known as c.856A>G), located in coding exon 6 of the RAD51C gene, results from an A to G substitution at nucleotide position 856. The methionine at codon 286 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |