Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810969 | SCV000951211 | uncertain significance | Fanconi anemia complementation group O | 2018-12-28 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is present in population databases (rs779104845, ExAC 0.002%). This sequence change replaces valine with alanine at codon 115 of the RAD51C protein (p.Val115Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. |
Ambry Genetics | RCV001020333 | SCV001181798 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | The p.V115A variant (also known as c.344T>C), located in coding exon 2 of the RAD51C gene, results from a T to C substitution at nucleotide position 344. The valine at codon 115 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly 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. |
Baylor Genetics | RCV003461197 | SCV004207972 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-08-04 | criteria provided, single submitter | clinical testing |