ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1533dup (p.Tyr512fs) (rs776733170)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631124 SCV000752119 pathogenic Glycogen storage disease type III 2017-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr512Ilefs*3) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776733170, ExAC 0.001%). This variant has been reported in combination with another variant in the AGL gene in an individual affected with glycogen storage disease type III (PMID: 20490926). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.

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