ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.500dup (p.Leu168fs)

dbSNP: rs1443902661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665707 SCV000789871 likely pathogenic Glycogen storage disease type III 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000665707 SCV001376768 pathogenic Glycogen storage disease type III 2022-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550843). This variant is also known as c.500_501insG. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 27106217). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu168Thrfs*3) 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).
Genome-Nilou Lab RCV000665707 SCV002055469 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing

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