Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813231 | SCV000953580 | pathogenic | Glycogen storage disease type III | 2023-03-04 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the AGL protein in which other variant(s) (p.Tyr1510*) have been determined to be pathogenic (PMID: 8990006, 20071996, 20490926, 23430490; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 656738). This premature translational stop signal has been observed in individual(s) with clinical symptoms of glycogen storage disease type III (Invitae). This sequence change creates a premature translational stop signal (p.Gln1509*) in the AGL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the AGL protein. |