Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658137 | SCV000779908 | pathogenic | not provided | 2018-05-22 | criteria provided, single submitter | clinical testing | The c.2670delT variant in the AGL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2670delT variant causes a frameshift starting with codon Proline 891, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Pro891LeufsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2670delT variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2670delT as a pathogenic variant. |
Invitae | RCV001062864 | SCV001227687 | pathogenic | Glycogen storage disease type III | 2022-02-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro891Leufs*9) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 546284). This variant has not been reported in the literature in individuals affected with AGL-related conditions. This variant is present in population databases (rs764591009, gnomAD 0.007%). |
Genome- |
RCV001062864 | SCV002055488 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001062864 | SCV002809866 | likely pathogenic | Glycogen storage disease type III | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001062864 | SCV004215235 | pathogenic | Glycogen storage disease type III | 2023-06-19 | criteria provided, single submitter | clinical testing |