ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)

dbSNP: rs1553193486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674441 SCV000799779 likely pathogenic Glycogen storage disease type III 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000674441 SCV003523404 pathogenic Glycogen storage disease type III 2022-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 558208). This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease III (PMID: 15833157). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1450*) 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).
Genome-Nilou Lab RCV000674441 SCV004050092 likely pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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