ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4347+1G>A

dbSNP: rs1553193463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539632 SCV000626755 pathogenic Glycogen storage disease type III 2023-02-22 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with glycogen storage disease (PMID: 26984562; Invitae). ClinVar contains an entry for this variant (Variation ID: 456505). Studies have shown that disruption of this splice site results in skipping of exon 33 and introduces a new termination codon (PMID: 26984562). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 32 of the AGL gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. This variant is not present in population databases (gnomAD no frequency).
Counsyl RCV000539632 SCV000797123 likely pathogenic Glycogen storage disease type III 2019-07-12 no assertion criteria provided clinical testing

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