ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.579del (p.Trp194fs)

dbSNP: rs2101094012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953912 SCV002239101 pathogenic Glycogen storage disease type III 2021-04-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp194Glyfs*7) 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 (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease type III (PMID: 19951495). This variant is also known as p.Thr193ThrfsX8 in the literature. For these reasons, this variant has been classified as Pathogenic.

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