Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210768 | SCV001382273 | pathogenic | Glycogen storage disease type III | 2021-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant has not been reported in the literature in individuals with AGL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg675Leufs*52) in the AGL gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV001210768 | SCV002810989 | likely pathogenic | Glycogen storage disease type III | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001210768 | SCV004049985 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |