Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651976 | SCV000773833 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2017-10-11 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTNNA3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 395 of the CTNNA3 protein (p.Pro395Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. |