Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409250 | SCV000485362 | likely pathogenic | Glycogen storage disease type III | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409250 | SCV002231749 | pathogenic | Glycogen storage disease type III | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln869*) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). 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: 370127). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000409250 | SCV004050011 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |