ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.118C>T (p.Gln40Ter) (rs771961377)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169437 SCV000220854 likely pathogenic Glycogen storage disease type III 2014-11-05 criteria provided, single submitter literature only
GeneDx RCV000579304 SCV000680764 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing The Q40X nonsense variant in the AGL gene has been reported previously in individuals with glycogen storage disease type III who were also found to harbor a second AGL gene variant (Austin et al., 2012; Li et al., 2014 ). The Q40X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.
Invitae RCV000169437 SCV000814986 pathogenic Glycogen storage disease type III 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln40*) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs771961377, ExAC 0.01%). This variant has been reported in several individuals affected with glycogen storage disease type III (PMID: 20648714, 25451272, 23430941). ClinVar contains an entry for this variant (Variation ID: 189045). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000169437 SCV000536806 pathogenic Glycogen storage disease type III 2016-04-28 no assertion criteria provided research

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