Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002016350 | SCV002302968 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-07-19 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1508779). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 150 of the RAD51D protein (p.Leu150Pro). |
| Ambry Genetics | RCV004046256 | SCV005019480 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-20 | criteria provided, single submitter | clinical testing | The p.L150P variant (also known as c.449T>C), located in coding exon 5 of the RAD51D gene, results from a T to C substitution at nucleotide position 449. The leucine at codon 150 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |