Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000625692 | SCV002178972 | pathogenic | Glycogen storage disease type III | 2020-11-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with glycogen storage disease type III (PMID: 29794575). ClinVar contains an entry for this variant (Variation ID: 522549). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys126*) 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). |
Baylor Genetics | RCV000625692 | SCV004193478 | pathogenic | Glycogen storage disease type III | 2022-06-27 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625692 | SCV000746196 | pathogenic | Glycogen storage disease type III | 2017-12-07 | no assertion criteria provided | clinical testing |