ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2963del (p.Leu988fs)

dbSNP: rs1313973421
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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 RCV001382476 SCV001581251 pathogenic Glycogen storage disease type III 2024-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu988Cysfs*8) 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 0.0008%). 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: 1070363). For these reasons, this variant has been classified as Pathogenic.

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