Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000824324 | SCV000965218 | uncertain significance | Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2021-04-27 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GYS2-related disease. This variant is present in population databases (rs376935348, ExAC 0.006%). This sequence change replaces glutamine with arginine at codon 17 of the GYS2 protein (p.Gln17Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. |