Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000791512 | SCV000930764 | uncertain significance | Glycogen storage disease, type VI | 2018-10-31 | criteria provided, single submitter | clinical testing | 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 C65"). 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. This variant has not been reported in the literature in individuals with PYGL-related disease. This variant is present in population databases (rs759925909, ExAC 0.03%). This sequence change replaces proline with serine at codon 737 of the PYGL protein (p.Pro737Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |