ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)

dbSNP: rs2101128697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037704 SCV002233618 pathogenic Glycogen storage disease type III 2021-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AGL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys415*) 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).
Baylor Genetics RCV002037704 SCV004193434 likely pathogenic Glycogen storage disease type III 2024-03-18 criteria provided, single submitter clinical testing

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