Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042595 | SCV001206287 | uncertain significance | Fanconi anemia complementation group O | 2022-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 83 of the RAD51C protein (p.Lys83Asn). 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. 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. ClinVar contains an entry for this variant (Variation ID: 840567). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002298854 | SCV002598985 | uncertain significance | not specified | 2022-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427512 | SCV002740945 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | clinical testing | The p.K83N variant (also known as c.249G>C), located in coding exon 2 of the RAD51C gene, results from a G to C substitution at nucleotide position 249. The lysine at codon 83 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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. |