Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665707 | SCV000789871 | likely pathogenic | Glycogen storage disease type III | 2017-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665707 | SCV001376768 | pathogenic | Glycogen storage disease type III | 2022-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550843). This variant is also known as c.500_501insG. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 27106217). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu168Thrfs*3) 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). |
Genome- |
RCV000665707 | SCV002055469 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing |