ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.546+2T>C

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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 RCV003064492 SCV003443316 likely pathogenic Glycogen storage disease, type II 2022-05-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 2, and is expected to result in the loss of the initiator methionine (PMID: 31301153). Disruption of this splice site has been observed in individual(s) with Pompe disease (PMID: 22252923). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 of the GAA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and is likely to result in the loss of the initiator methionine.

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