ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1637-2A>G

dbSNP: rs2143882034
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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 RCV001960734 SCV002235071 pathogenic Glycogen storage disease, type II 2021-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with incorrect splicing, which introduces a premature termination codon or an in-frame deletion (PMID: 22676651). This variant has been observed in individual(s) with Pompe disease (PMID: 22676651). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 11 of the GAA gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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