ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1437+2T>C

dbSNP: rs1598580407
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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 RCV001053248 SCV001217499 pathogenic Glycogen storage disease, type II 2023-06-22 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Pompe disease (PMID: 11343339, 18429042). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 9, but is expected to preserve the integrity of the reading-frame (PMID: 11343339). ClinVar contains an entry for this variant (Variation ID: 849313). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 of the GAA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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