Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001966599 | SCV002254085 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-02-07 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 67 of the RAD51D protein (p.Asn67Lys). 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: 1471055). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51D protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV003170262 | SCV003855296 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-08 | criteria provided, single submitter | clinical testing | The p.N67K variant (also known as c.201T>G), located in coding exon 3 of the RAD51D gene, results from a T to G substitution at nucleotide position 201. The asparagine at codon 67 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV001966599 | SCV005054030 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-12-25 | criteria provided, single submitter | clinical testing |