Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000700539 | SCV000829298 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-02-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 99 of the RAD51D protein (p.Thr99Ile). 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: 577716). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAD51D protein function. 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. |
| Color Diagnostics, |
RCV000772887 | SCV000906269 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000772887 | SCV004001154 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-30 | criteria provided, single submitter | clinical testing | The p.T99I variant (also known as c.296C>T), located in coding exon 4 of the RAD51D gene, results from a C to T substitution at nucleotide position 296. The threonine at codon 99 is replaced by isoleucine, an amino acid with similar properties. This variant was identified in a cohort of 3,579 African males diagnosed with prostate cancer who underwent multi-gene panel testing of 19 DNA repair and cancer predisposition genes (Matejcic M et al. JCO Precis Oncol, 2020 Jan;4:32-43). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003317348 | SCV004020904 | uncertain significance | not specified | 2023-06-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000700539 | SCV004200384 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-08-10 | criteria provided, single submitter | clinical testing |