Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Human Genetics | RCV001293788 | SCV001482487 | pathogenic | Glycogen storage disease type III | 2019-08-04 | criteria provided, single submitter | clinical testing | disease causing |
Neuberg Centre For Genomic Medicine, |
RCV001293788 | SCV002072864 | likely pathogenic | Glycogen storage disease type III | criteria provided, single submitter | clinical testing | The stop gained p.Q1376* in AGL (NM_000642.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q1376* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. | |
Genome- |
RCV001293788 | SCV004050079 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |