Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000559095 | SCV000628237 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1002 of the RAD50 protein (p.Arg1002Lys). 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 RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 457428). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV000559095 | SCV002748677 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-31 | criteria provided, single submitter | clinical testing | The p.R1002K variant (also known as c.3005G>A), located in coding exon 19 of the RAD50 gene, results from a G to A substitution at nucleotide position 3005. The arginine at codon 1002 is replaced by lysine, an amino acid with highly 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. |