Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641182 | SCV000762820 | uncertain significance | Lethal congenital glycogen storage disease of heart | 2023-04-11 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 533876). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 350 of the PRKAG2 protein (p.Arg350Lys). |
Ambry Genetics | RCV002388077 | SCV002703168 | uncertain significance | Cardiovascular phenotype | 2022-07-06 | criteria provided, single submitter | clinical testing | The p.R350K variant (also known as c.1049G>A), located in coding exon 9 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 1049. The arginine at codon 350 is replaced by lysine, an amino acid with highly 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. |
Revvity Omics, |
RCV003129955 | SCV003809870 | uncertain significance | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing |