ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.104T>G (p.Leu35Ter)

dbSNP: rs1057516567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410214 SCV000485881 likely pathogenic Glycogen storage disease type III 2016-02-25 criteria provided, single submitter clinical testing
Centre for Human Genetics RCV000410214 SCV001482482 pathogenic Glycogen storage disease type III 2019-02-25 criteria provided, single submitter clinical testing disease causing
Invitae RCV000410214 SCV001584151 pathogenic Glycogen storage disease type III 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu35*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 26913919). ClinVar contains an entry for this variant (Variation ID: 370535). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000410214 SCV002055462 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410214 SCV004193390 pathogenic Glycogen storage disease type III 2022-08-29 criteria provided, single submitter clinical testing

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