Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000216593 | SCV000274781 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-13 | criteria provided, single submitter | clinical testing | The p.T3A variant (also known as c.7A>G), located in coding exon 1 of the MRE11A gene, results from an A to G substitution at nucleotide position 7. The threonine at codon 3 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly 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. |
| Invitae | RCV001299121 | SCV001488200 | uncertain significance | Ataxia-telangiectasia-like disorder | 2023-07-07 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 231050). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3 of the MRE11 protein (p.Thr3Ala). |