Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000627773 | SCV000254871 | uncertain significance | Ataxia-telangiectasia-like disorder | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 288 of the MRE11 protein (p.Arg288Cys). This variant is present in population databases (rs753958669, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 216615). 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 C15"). 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 | RCV000198965 | SCV000273099 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-24 | criteria provided, single submitter | clinical testing | The p.R288C variant (also known as c.862C>T), located in coding exon 8 of the MRE11A gene, results from a C to T substitution at nucleotide position 862. The arginine at codon 288 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |