Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303323 | SCV001492565 | uncertain significance | Glycogen storage disease IXa1 | 2020-07-02 | 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 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"). This variant has been observed in individual(s) with glycogen storage disease type IXa (GSDIXa) (PMID: 25266922, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 824 of the PHKA2 protein (p.Arg824Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |