Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002027009 | SCV002316782 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2021-03-18 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCND3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 239 of the KCND3 protein (p.Val239Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. |