ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1551+1G>C

dbSNP: rs770780848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670717 SCV000795609 pathogenic Glycogen storage disease, type II 2017-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784264 SCV002023873 pathogenic not provided 2019-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670717 SCV002781875 likely pathogenic Glycogen storage disease, type II 2021-09-13 criteria provided, single submitter clinical testing
Invitae RCV000670717 SCV004296874 pathogenic Glycogen storage disease, type II 2023-11-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the GAA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Pompe disease (PMID: 7881425, 22252923, 33202836). This variant is also known as IVS10 +1GT-CT. ClinVar contains an entry for this variant (Variation ID: 554983). Studies have shown that disruption of this splice site results in skipping of exon 10, but is expected to preserve the integrity of the reading-frame (PMID: 7881425). For these reasons, this variant has been classified as Pathogenic.

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