Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000803417 | SCV000943288 | uncertain significance | Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2018-09-20 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine 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 (rs148617918, ExAC 0.03%). This sequence change replaces arginine with cysteine at codon 558 of the GYS2 protein (p.Arg558Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. |
| Ambry Genetics | RCV002534745 | SCV003695744 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.1672C>T (p.R558C) alteration is located in exon 14 (coding exon 14) of the GYS2 gene. This alteration results from a C to T substitution at nucleotide position 1672, causing the arginine (R) at amino acid position 558 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |