ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)

gnomAD frequency: 0.00003  dbSNP: rs1188310172
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631149 SCV000752148 pathogenic Glycogen storage disease type III 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr538*) 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 (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 526587). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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