Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

Location

exon 8

DNA nomenclature

c.1256A>T

RNA nomenclature

r.1256a>u

Protein nomenclature

p.(Asp419Val)

Type of variant DNA

Substitution

Type of variant RNA

Substitution/ Splicing (exon variant)

Type of variant Protein

Substitution (missense), Deletion

ACMG classification

Likely pathogenic

Predicted severity

Potentially mild

Phenotype with null allele

Unknown (disease-associated)

CRIM status

Positive

MAF

MAF not reported

Biochemical evidence of pathogenicity

gives 21,3% residual activity in expression study - partial skip of exon 8

Splicing and translation prediction

new cryptic splice donor

Biochemical evidence of CRIM status

detection of leaky wildtype splicing

Prediction of CRIM status

unknown

Missense prediction (Mutation Taster)

Polymorphism (p-value: 1)

Missense prediction (SIFT)

Tolerated (score: 0.11)

Missense prediction (Align GVGD)

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

www.pompecenter.nl