Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204298 | SCV001375498 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-09 | 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 C0"). This variant has not been reported in the literature in individuals with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 807 of the RAD50 protein (p.Arg807Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. |
Ambry Genetics | RCV001204298 | SCV002737372 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-16 | criteria provided, single submitter | clinical testing | The p.R807G variant (also known as c.2419A>G), located in coding exon 15 of the RAD50 gene, results from an A to G substitution at nucleotide position 2419. The arginine at codon 807 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |