Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001365432 | SCV001561704 | uncertain significance | Glycogen storage disease type III | 2022-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 953 of the AGL protein (p.Gly953Arg). This variant is not present in population databases (gnomAD no frequency). 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: 1056579). 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"). 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. |
| Ambry Genetics | RCV003284272 | SCV003967633 | uncertain significance | Inborn genetic diseases | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.2857G>A (p.G953R) alteration is located in exon 22 (coding exon 21) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 2857, causing the glycine (G) at amino acid position 953 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Genome- |
RCV001365432 | SCV004050019 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |