Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342789 | SCV001536736 | uncertain significance | Glycogen storage disease IXa1 | 2022-01-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1097 of the PHKA2 protein (p.Gly1097Ser). This variant is present in population databases (rs145952475, gnomAD 0.03%). This missense change has been observed in individuals with glycogen storage disease, type IXa (PMID: 25070466). ClinVar contains an entry for this variant (Variation ID: 1039335). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Ce |
RCV001531133 | SCV001746112 | likely pathogenic | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002246320 | SCV002519120 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |