Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ege University Pediatric Genetics, |
RCV000790395 | SCV000925633 | uncertain significance | Glycogen storage disease IIIa | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001873203 | SCV002299246 | uncertain significance | Glycogen storage disease type III | 2022-07-17 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1226 of the AGL protein (p.Ile1226Thr). This variant is present in population databases (rs749118487, gnomAD 0.01%). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 31319225). ClinVar contains an entry for this variant (Variation ID: 635319). 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. 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- |
RCV001873203 | SCV004050060 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |