ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.967C>T (p.Arg323Ter)

dbSNP: rs757987101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631131 SCV000752126 pathogenic Glycogen storage disease type III 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg323*) 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: 526570). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000631131 SCV002805236 pathogenic Glycogen storage disease type III 2021-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631131 SCV004049938 pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000631131 SCV004215402 likely pathogenic Glycogen storage disease type III 2023-04-28 criteria provided, single submitter clinical testing

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