ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)

dbSNP: rs1553188849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666456 SCV000790752 likely pathogenic Glycogen storage disease type III 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV000666456 SCV001587458 pathogenic Glycogen storage disease type III 2023-09-26 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease type III (PMID: 26885414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Gln1079*) 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). ClinVar contains an entry for this variant (Variation ID: 551403). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000666456 SCV002055495 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing

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