Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002335993 | SCV002642472 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-17 | criteria provided, single submitter | clinical testing | The p.I17T variant (also known as c.50T>C), located in coding exon 1 of the RAD51D gene, results from a T to C substitution at nucleotide position 50. The isoleucine at codon 17 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |
| Labcorp Genetics |
RCV003096614 | SCV003008605 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-07-29 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 17 of the RAD51D protein (p.Ile17Thr). |