Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641178 | SCV000762815 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2017-10-10 | 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: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with PRKAG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 354 of the PRKAG2 protein (p.Leu354Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |