Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557259 | SCV000626702 | uncertain significance | Glycogen storage disease type III | 2022-03-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 864 of the AGL protein (p.Arg864Gln). This variant is present in population databases (rs776599112, gnomAD 0.02%). This missense change has been observed in individual(s) with glycogen storage disease III (PMID: 24257475). ClinVar contains an entry for this variant (Variation ID: 456475). 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. 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. |
Fulgent Genetics, |
RCV000557259 | SCV002783976 | uncertain significance | Glycogen storage disease type III | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000557259 | SCV004050010 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000557259 | SCV002091553 | uncertain significance | Glycogen storage disease type III | 2019-10-28 | no assertion criteria provided | clinical testing |