Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243002 | SCV001416130 | uncertain significance | Glycogen storage disease type III | 2022-02-18 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 414 of the AGL protein (p.Pro414Gln). This variant is present in population databases (rs758882822, gnomAD 0.002%). 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: 967966). 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. |
Fulgent Genetics, |
RCV001243002 | SCV002781127 | uncertain significance | Glycogen storage disease type III | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001243002 | SCV004049956 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001243002 | SCV002091481 | uncertain significance | Glycogen storage disease type III | 2021-06-29 | no assertion criteria provided | clinical testing |