Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776403 | SCV000911884 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000803205 | SCV000943067 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 264 of the RAD51D protein (p.Leu264Pro). This variant is not present in population databases (gnomAD no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 630555). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. |
Ambry Genetics | RCV000776403 | SCV001189436 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing | The p.L264P variant (also known as c.791T>C), located in coding exon 9 of the RAD51D gene, results from a T to C substitution at nucleotide position 791. The leucine at codon 264 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
MGZ Medical Genetics Center | RCV000803205 | SCV002581731 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-08-01 | criteria provided, single submitter | clinical testing |