Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001985424 | SCV002217916 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2021-03-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 180 of the RAD51D protein (p.Asp180Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Ambry Genetics | RCV002344098 | SCV002643431 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-19 | criteria provided, single submitter | clinical testing | The p.D180N variant (also known as c.538G>A), located in coding exon 6 of the RAD51D gene, results from a G to A substitution at nucleotide position 538. The aspartic acid at codon 180 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not 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. |