Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674111 | SCV000799387 | likely pathogenic | Glycogen storage disease type III | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674111 | SCV000835246 | pathogenic | Glycogen storage disease type III | 2023-07-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg8Glufs*5) 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 has not been reported in the literature in individuals affected with AGL-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557911). |
Genome- |
RCV000674111 | SCV002055457 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000674111 | SCV001454493 | pathogenic | Glycogen storage disease type III | 2020-09-16 | no assertion criteria provided | clinical testing |