Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001221508 | SCV001393557 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 61 of the RAD51D protein (p.Phe61Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 949917). 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. 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. |
| Baylor Genetics | RCV001221508 | SCV004200394 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-07-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004032420 | SCV005019432 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-02 | criteria provided, single submitter | clinical testing | The p.F61L variant (also known as c.183C>G), located in coding exon 3 of the RAD51D gene, results from a C to G substitution at nucleotide position 183. The phenylalanine at codon 61 is replaced by leucine, an amino acid with highly similar 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 alteration remains unclear. |