Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000165543 | SCV000216275 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing | The p.M294V variant (also known as c.880A>G), located in coding exon 8 of the MRE11A gene, results from an A to G substitution at nucleotide position 880. The methionine at codon 294 is replaced by valine, an amino acid with highly similar 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. |
| Invitae | RCV002228746 | SCV000547425 | uncertain significance | Ataxia-telangiectasia-like disorder | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 294 of the MRE11 protein (p.Met294Val). This variant is present in population databases (rs786202636, gnomAD 0.01%). 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: 186023). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Baylor Genetics | RCV003462178 | SCV004193799 | uncertain significance | Ataxia-telangiectasia-like disorder 1 | 2023-09-08 | criteria provided, single submitter | clinical testing |