Pompe disease GAA variant database
Back to Master table

Variants [649]

Link to Pubmed Location DNA nomenclature RNA nomenclature Protein nomenclature Type of variant DNA Type of variant RNA Type of variant Protein MAF RS number Biochemical evidence of pathogenicity Splicing and translation prediction Biochemical evidence of CRIM status Prediction of CRIM status Number of patients Id Predicted severity Phenotype with null allele CRIM status Missense prediction (Mutation Taster) Missense prediction (SIFT) Missense prediction (Align GVGD)
PubMed exon 14 c.1942G>A r.(1942g>a) p.(Gly648Ser) Substitution Substitution Substitution (missense) MAF is less than 1% rs536906561 new cryptic splice acceptor unknown 649 Potentially less severe Classic infantile Unknown Disease causing (p-value: 1) Deleterious (score: 0) Class C55 (GV: 0.00 - GD: 55.27)
Displaying 1 - 13 of 13
  • Print
Link to
patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown 57 years 1 unknown
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult 31 years F 50 years - - - 1 Caucasian
PubMed c.1942G>A intron 6 c.1076-22T>G Childhood Childhood 14 years M 17 years Wolf–Parkinson–White syndrome (at 17y) + + + + 1 Caucasian
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 years 73 years - Vignos scale l.e. (2/3) 1 Germany
PubMed c.1942G>A intron 6 c.1076-22T>G Childhood Adult 25 years 47 years - + 24h/d + + - 1 Germany
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1942G>A exon 18 c.2560C>T Classic infantile Classic infantile <1 years <1 years + + 9 French Guiana
PubMed c.1942G>A second mutation is not reported Classic infantile <1 years <1 years + + 1 French Guiana
PubMed c.1942G>A intron 18 c.2646+2T>A Classic infantile Classic infantile birth M 12d + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1942G>A second mutation is not reported Classic infantile <12 months + 5 Southern India (2), Northern India (3)
PubMed c.1942G>A exon 7 c.1099T>C Classic infantile Classic infantile 3 months 5 months + 1 Thailand

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

www.pompecenter.nl