Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001278804 | SCV002785585 | uncertain significance | Glycogen storage disease type III | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001278804 | SCV003447620 | uncertain significance | Glycogen storage disease type III | 2022-04-27 | 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 1347 of the AGL protein (p.Asp1347Gly). This variant is present in population databases (rs757161555, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 990722). 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 tolerated. 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. |
Genome- |
RCV001278804 | SCV004050075 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001278804 | SCV001465845 | uncertain significance | Glycogen storage disease type III | 2020-06-23 | no assertion criteria provided | clinical testing |