Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069267 | SCV001234422 | pathogenic | Glycogen storage disease type III | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln199*) 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 present in population databases (rs780694207, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 26984562). ClinVar contains an entry for this variant (Variation ID: 862529). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001069267 | SCV002809941 | pathogenic | Glycogen storage disease type III | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001069267 | SCV003932179 | pathogenic | Glycogen storage disease type III | 2023-03-06 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM3 |
Genome- |
RCV001069267 | SCV004049925 | pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001069267 | SCV004192651 | pathogenic | Glycogen storage disease type III | 2023-03-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480948 | SCV004225772 | pathogenic | not provided | 2022-05-18 | criteria provided, single submitter | clinical testing | PM2, PM3, PVS1 |
Natera, |
RCV001069267 | SCV002091450 | pathogenic | Glycogen storage disease type III | 2021-04-02 | no assertion criteria provided | clinical testing |