Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000686884 | SCV000814424 | uncertain significance | Fanconi anemia complementation group O | 2023-11-15 | 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 318 of the RAD51C protein (p.Asp318Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 566939). 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 with a negative predictive value of 80%. 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. |
| Center for Genomic Medicine, |
RCV002268249 | SCV002551145 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002369832 | SCV002688462 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-24 | criteria provided, single submitter | clinical testing | The p.D318N variant (also known as c.952G>A), located in coding exon 7 of the RAD51C gene, results from a G to A substitution at nucleotide position 952. The aspartic acid at codon 318 is replaced by asparagine, an amino acid with highly similar properties. This alteration was previously reported in 1/3429 individuals with invasive epithelial ovarian cancer and in 0/2772 controls (Song H et al. J. Clin. Oncol. 2015 Sep; 33(26):2901-7). This amino acid position is well 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. |