ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4100del (p.Gly1367fs)

dbSNP: rs777120567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389018 SCV001590222 pathogenic Glycogen storage disease type III 2020-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant has not been reported in the literature in individuals with AGL-related conditions. This variant is present in population databases (rs777120567, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gly1367Glufs*17) in the AGL gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001389018 SCV004215346 likely pathogenic Glycogen storage disease type III 2023-05-14 criteria provided, single submitter clinical testing

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