ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)

gnomAD frequency: 0.00001  dbSNP: rs1432024176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674508 SCV000799855 likely pathogenic Glycogen storage disease type III 2018-05-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674508 SCV004215268 likely pathogenic Glycogen storage disease type III 2023-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674508 SCV004529243 pathogenic Glycogen storage disease type III 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1117*) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 558267). For these reasons, this variant has been classified as Pathogenic.

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