Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000468552 | SCV000551341 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2016-05-03 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. This sequence change replaces arginine with glycine at codon 255 of the RAD51D protein (p.Arg255Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. |
| Ambry Genetics | RCV004659049 | SCV005159537 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-12 | criteria provided, single submitter | clinical testing | The p.R255G variant (also known as c.763A>G), located in coding exon 9 of the RAD51D gene, results from an A to G substitution at nucleotide position 763. The arginine at codon 255 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |