ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003459960 SCV004193378 likely pathogenic Glycogen storage disease type III 2024-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003459960 SCV004279240 pathogenic Glycogen storage disease type III 2023-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg784Lysfs*6) 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 0.0009%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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