Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809448 | SCV000949599 | uncertain significance | Charcot-Marie-Tooth disease, axonal, type 2R | 2019-08-08 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 712 of the TRIM2 protein (p.Pro712Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs199912457, ExAC 0.1%). This variant has not been reported in the literature in individuals with TRIM2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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. |