ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) (rs1480850606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813231 SCV000953580 pathogenic Glycogen storage disease type III 2020-09-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the AGL gene (p.Gln1509*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acids of the AGL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in two siblings in a family suspected with glycogen storage disease type III (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the AGL protein. Other variant(s) that disrupt this region (p.Tyr1510*) have been determined to be pathogenic (PMID: 8990006, 23430490, 20071996, 20490926, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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