ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1020del (p.Glu340fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328372 SCV001519489 pathogenic Glycogen storage disease type III 2021-03-01 criteria provided, single submitter clinical testing Variant summary: AGL c.1020delA (p.Glu340AspfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251286 control chromosomes (gnomAD). c.1020delA (also cited as c.1019delA in the literature) has been reported in the literature in multiple individuals (homozygous/compound heterozygous/heterozygous) affected with Glycogen Storage Disease Type III (example: Aoyama_2009, Endo_2006, Okubo_2015). Many of these patients were from Turkey where it was reported as a founder mutation (Okubo_2015). These data indicate that the variant is very likely to be associated with disease. No enzymatic activity was found in patients who were homozygous for the variant (Aoyama_2009, Okubo_2015). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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