ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)

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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 RCV003518734 SCV004293344 pathogenic Glycogen storage disease type III 2023-05-31 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with gylcogen storage disease type III (PMID: 22089644). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1012Valfs*25) 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). For these reasons, this variant has been classified as Pathogenic.

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