Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687768 | SCV000815354 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-18 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 337 of the RAD50 protein (p.Arg337Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. |
Ambry Genetics | RCV000687768 | SCV001178018 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-13 | criteria provided, single submitter | clinical testing | The p.R337S variant (also known as c.1011G>C), located in coding exon 7 of the RAD50 gene, results from a G to C substitution at nucleotide position 1011. The arginine at codon 337 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved through mammals but not in all 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. |