Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808053 | SCV000948139 | uncertain significance | Glycogen storage disease, type V | 2018-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 792 of the PYGM protein (p.Tyr792Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs757292296, ExAC 0.01%). This variant has not been reported in the literature in individuals with PYGM-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV000808053 | SCV002092306 | uncertain significance | Glycogen storage disease, type V | 2020-02-21 | no assertion criteria provided | clinical testing |