Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539816 | SCV000654848 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2017-05-31 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on CTNNA3 function. The available evidence is currently insufficient to determine its role 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a CTNNA3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 217 of the CTNNA3 protein (p.Leu217Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. |