Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001339798 | SCV001533567 | uncertain significance | Ataxia-telangiectasia-like disorder | 2020-06-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with lysine at codon 530 of the MRE11 protein (p.Arg530Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs151329524, ExAC 0.001%). This variant has not been reported in the literature in individuals with MRE11-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |