Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002239154 | SCV002509469 | uncertain significance | Ataxia-telangiectasia-like disorder | 2021-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 115 of the MRE11 protein (p.Asn115Ser). 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 disruptive. This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV002463157 | SCV002756411 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-07 | criteria provided, single submitter | clinical testing | The p.N115S variant (also known as c.344A>G), located in coding exon 4 of the MRE11A gene, results from an A to G substitution at nucleotide position 344. The asparagine at codon 115 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in 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. |