Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811646 | SCV000951922 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2018-12-25 | 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 C0"). This variant has not been reported in the literature in individuals with PRKAG2-related disease. This variant is present in population databases (rs760258924, ExAC 0.009%). This sequence change replaces glutamic acid with glycine at codon 347 of the PRKAG2 protein (p.Glu347Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. |
Ambry Genetics | RCV002390639 | SCV002702039 | uncertain significance | Cardiovascular phenotype | 2022-01-19 | criteria provided, single submitter | clinical testing | The p.E347G variant (also known as c.1040A>G), located in coding exon 9 of the PRKAG2 gene, results from an A to G substitution at nucleotide position 1040. The glutamic acid at codon 347 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |