Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001217917 | SCV001389777 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2019-06-24 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD51D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 43 of the RAD51D protein (p.Cys43Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. |
| Ambry Genetics | RCV003294047 | SCV004001163 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-06 | criteria provided, single submitter | clinical testing | The p.C43R variant (also known as c.127T>C), located in coding exon 2 of the RAD51D gene, results from a T to C substitution at nucleotide position 127. The cysteine at codon 43 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |