Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537070 | SCV000627772 | uncertain significance | Long QT syndrome | 2017-05-09 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. 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 is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CAV3-related disease. This sequence change replaces alanine with valine at codon 85 of the CAV3 protein (p.Ala85Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
Fulgent Genetics, |
RCV002497065 | SCV002816108 | uncertain significance | Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type | 2021-09-15 | criteria provided, single submitter | clinical testing |