Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631131 | SCV000752126 | pathogenic | Glycogen storage disease type III | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg323*) 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: 526570). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000631131 | SCV002805236 | pathogenic | Glycogen storage disease type III | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000631131 | SCV004049938 | pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000631131 | SCV004215402 | likely pathogenic | Glycogen storage disease type III | 2023-04-28 | criteria provided, single submitter | clinical testing |