Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819997 | SCV000960689 | uncertain significance | Charcot-Marie-Tooth disease type 2R | 2018-12-27 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TRIM2-related conditions. This variant is present in population databases (rs780090814, ExAC 0.002%). This sequence change replaces glycine with valine at codon 571 of the TRIM2 protein (p.Gly571Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. |