Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670429 | SCV000795280 | pathogenic | Glycogen storage disease type III | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670429 | SCV002162146 | pathogenic | Glycogen storage disease type III | 2022-04-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser530*) 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). ClinVar contains an entry for this variant (Variation ID: 554746). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with glycogen storage disease type III (PMID: 11977176, 26885414). This variant is not present in population databases (gnomAD no frequency). |
Genome- |
RCV000670429 | SCV004049967 | pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000670429 | SCV004193356 | pathogenic | Glycogen storage disease type III | 2022-10-18 | criteria provided, single submitter | clinical testing |