Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000641185 | SCV000762823 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2017-12-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PRKAG2-related disease. 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 is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 208 of the PRKAG2 protein (p.Ser208Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. |
| Ambry Genetics | RCV003343968 | SCV004051972 | uncertain significance | Cardiovascular phenotype | 2023-09-11 | criteria provided, single submitter | clinical testing | The p.S208T variant (also known as c.622T>A), located in coding exon 4 of the PRKAG2 gene, results from a T to A substitution at nucleotide position 622. The serine at codon 208 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |