Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665072 | SCV000789131 | likely pathogenic | Glycogen storage disease type III | 2017-01-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665072 | SCV003523342 | pathogenic | Glycogen storage disease type III | 2023-08-09 | 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: 550348). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 26984562). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1442Valfs*27) 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- |
RCV000665072 | SCV004050091 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |