Pompe disease GAA variant database


exon 8
Substitution/ Splicing (exon variant)
Substitution (missense), Deletion
Likely pathogenic
Potentially mild
Unknown (disease-associated)
MAF not reported
gives 21,3% residual activity in expression study - partial skip of exon 8
new cryptic splice donor
detection of leaky wildtype splicing
Polymorphism (p-value: 1)
Tolerated (score: 0.11)
Class C15 (GV: 99.09 - GD: 83.01)

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854