Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410214 | SCV000485881 | likely pathogenic | Glycogen storage disease type III | 2016-02-25 | criteria provided, single submitter | clinical testing | |
Centre for Human Genetics | RCV000410214 | SCV001482482 | pathogenic | Glycogen storage disease type III | 2019-02-25 | criteria provided, single submitter | clinical testing | disease causing |
Invitae | RCV000410214 | SCV001584151 | pathogenic | Glycogen storage disease type III | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu35*) 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 premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 26913919). ClinVar contains an entry for this variant (Variation ID: 370535). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000410214 | SCV002055462 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000410214 | SCV004193390 | pathogenic | Glycogen storage disease type III | 2022-08-29 | criteria provided, single submitter | clinical testing |