Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001954166 | SCV002237547 | uncertain significance | not provided | 2021-07-29 | 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. This variant has not been reported in the literature in individuals affected with KIF2A-related conditions. This variant is present in population databases (rs774962082, ExAC 0.002%). This sequence change replaces valine with alanine at codon 88 of the KIF2A protein (p.Val88Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. |