ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.94C>T (p.Gln32Ter)

gnomAD frequency: 0.00001  dbSNP: rs786204489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169156 SCV000220383 likely pathogenic Glycogen storage disease type III 2014-06-05 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169156 SCV001554545 likely pathogenic Glycogen storage disease type III 2021-03-31 criteria provided, single submitter clinical testing Variant summary: AGL c.94C>T (p.Gln32X) 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 allele was found at a frequency of 4e-06 in 251228 control chromosomes (gnomAD). c.94C>T has been reported in the literature in at least an individual affected with Glycogen Storage Disease Type III (example: Shaiu_2000). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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 likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000169156 SCV001584150 pathogenic Glycogen storage disease type III 2025-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln32*) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant is present in population databases (rs786204489, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease III (PMID: 10655153). ClinVar contains an entry for this variant (Variation ID: 188818). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000169156 SCV002055460 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169156 SCV004211013 pathogenic Glycogen storage disease type III 2023-09-14 criteria provided, single submitter clinical testing

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