Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002232294 | SCV000642114 | uncertain significance | Ataxia-telangiectasia-like disorder | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 364 of the MRE11 protein (p.Arg364Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. 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 disruptive. 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. |
| Ambry Genetics | RCV001017252 | SCV001178301 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-15 | criteria provided, single submitter | clinical testing | The p.R364L variant (also known as c.1091G>T), located in coding exon 9 of the MRE11A gene, results from a G to T substitution at nucleotide position 1091. The arginine at codon 364 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003470754 | SCV004193831 | uncertain significance | Ataxia-telangiectasia-like disorder 1 | 2023-07-11 | criteria provided, single submitter | clinical testing |