ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3458del (p.Ala1153fs)

dbSNP: rs2100818312
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953786 SCV002242915 pathogenic Glycogen storage disease type III 2022-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1153Valfs*20) 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 not present in population databases (gnomAD no frequency). 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: 1457486). For these reasons, this variant has been classified as Pathogenic.

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