ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)

dbSNP: rs767346840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670555 SCV000795418 likely pathogenic Glycogen storage disease type III 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000670555 SCV002243081 pathogenic Glycogen storage disease type III 2023-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp75*) 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 (rs767346840, gnomAD 0.0009%). 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: 554853). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000670555 SCV002810272 likely pathogenic Glycogen storage disease type III 2022-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670555 SCV004049913 likely pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670555 SCV004190839 likely pathogenic Glycogen storage disease type III 2023-02-19 criteria provided, single submitter clinical testing

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