Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794850 | SCV000934283 | pathogenic | Glycogen storage disease type III | 2018-11-07 | 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile288Glyfs*16) in the AGL gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV000794850 | SCV002799846 | likely pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000794850 | SCV004049931 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000794850 | SCV004193401 | likely pathogenic | Glycogen storage disease type III | 2022-08-06 | criteria provided, single submitter | clinical testing |