ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4161+5G>A

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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 RCV003518736 SCV004293347 pathogenic Glycogen storage disease type III 2023-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 25451950). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is also known as IVS31+5G>A. This variant has been observed in individual(s) with glycogen storage disease type III (PMID: 17196294, 25451950). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 30 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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