ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449735 SCV001653006 likely pathogenic Glycogen storage disease type III 2020-06-25 criteria provided, single submitter clinical testing The p.Arg1147X variant in AGL has not been reported in individuals with glycogen storage disease or in large population studies. This nonsense variant leads to a premature termination codon at position 1147, which is predicted to lead to a truncated or absent protein. Loss of function variants in the AGL gene have been strongly associated with autosomal recessive glycogen storage disease type III. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive glycogen storage disease type III. ACMG/AMP Criteria applied: PM2, PVS1.

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