Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000572753 | SCV000671938 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-20 | criteria provided, single submitter | clinical testing | The c.871C>A (p.R291S) alteration is located in exon 9 (coding exon 9) of the RAD51D gene. This alteration results from a C to A substitution at nucleotide position 871, causing the arginine (R) at amino acid position 291 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000811734 | SCV000952017 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2025-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 291 of the RAD51D protein (p.Arg291Ser). 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: 484769). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RAD51D protein function with a negative predictive value of 80%. 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. |