Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631164 | SCV000752164 | uncertain significance | Glycogen storage disease type III | 2022-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 526 of the AGL protein (p.Asp526Gly). This variant is present in population databases (rs777393482, gnomAD 0.002%). This missense change has been observed in individual(s) with glycogen storage disease type III (PMID: 27106217). ClinVar contains an entry for this variant (Variation ID: 526603). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Counsyl | RCV000631164 | SCV000788835 | uncertain significance | Glycogen storage disease type III | 2017-01-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000631164 | SCV002055103 | uncertain significance | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000631164 | SCV002091502 | uncertain significance | Glycogen storage disease type III | 2020-09-01 | no assertion criteria provided | clinical testing |