Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001062519 | SCV001227326 | pathogenic | Glycogen storage disease type III | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln719*) 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: 20648714). ClinVar contains an entry for this variant (Variation ID: 856946). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001062519 | SCV002766090 | likely pathogenic | Glycogen storage disease type III | 2022-11-18 | criteria provided, single submitter | clinical testing | Variant summary: AGL c.2155C>T (p.Gln719X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250058 control chromosomes (gnomAD). c.2155C>T has been reported in the literature in individuals affected with Glycogen Storage Disease (example: Hijazi_2021 and Sadeh_2021). These data indicate that the variant may be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Genome- |
RCV001062519 | SCV004049992 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001062519 | SCV004216191 | pathogenic | Glycogen storage disease type III | 2023-09-25 | criteria provided, single submitter | clinical testing |