Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000456633 | SCV000551351 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-07-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 410556). 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. 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. 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 valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 245 of the RAD51D protein (p.Val245Ala). |
| Ambry Genetics | RCV001026314 | SCV001188671 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-24 | criteria provided, single submitter | clinical testing | The p.V245A variant (also known as c.734T>C), located in coding exon 8 of the RAD51D gene, results from a T to C substitution at nucleotide position 734. The valine at codon 245 is replaced by alanine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV001026314 | SCV001734157 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-10 | criteria provided, single submitter | clinical testing | This missense variant replaces valine with alanine at codon 245 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Center for Genomic Medicine, |
RCV003321614 | SCV004026733 | uncertain significance | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing |