Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000293486 | SCV000407297 | uncertain significance | Glycogen storage disease, type II | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000293486 | SCV000626563 | uncertain significance | Glycogen storage disease, type II | 2022-05-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 777 of the GAA protein (p.Thr777Met). This variant is present in population databases (rs746779016, gnomAD 0.007%). This missense change has been observed in individual(s) with limb-girdle muscle weakness and/or elevated serum creatine kinase (PMID: 29149851). ClinVar contains an entry for this variant (Variation ID: 325793). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Genome- |
RCV000293486 | SCV002027305 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000293486 | SCV002092127 | uncertain significance | Glycogen storage disease, type II | 2020-03-31 | no assertion criteria provided | clinical testing |