Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670555 | SCV000795418 | likely pathogenic | Glycogen storage disease type III | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670555 | SCV002243081 | pathogenic | Glycogen storage disease type III | 2023-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp75*) 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 (rs767346840, gnomAD 0.0009%). 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: 554853). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000670555 | SCV002810272 | likely pathogenic | Glycogen storage disease type III | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000670555 | SCV004049913 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000670555 | SCV004190839 | likely pathogenic | Glycogen storage disease type III | 2023-02-19 | criteria provided, single submitter | clinical testing |