Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344196 | SCV001538232 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (rs778349716, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 121 of the GYS1 protein (p.Ala121Val). ClinVar contains an entry for this variant (Variation ID: 1040534). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). |