The NM_000152.5:c.131G>T variant in GAA is predicted to result in the substitution of glycine by valine at amino acid 44 (p.Gly44Val). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00025 (32/126504 alleles) in the European non-Finnish population, which is lower than the ClinGen LSD VCEP’s threshold for PM2_Supporting (<0.001), meeting this criterion (PM2_Supporting). The computational predictor REVEL gives a score of 0.245 which is below the threshold of 0.5, evidence that does not predict a damaging effect on GAA function. No impact on splicing is predicted by SpliceAI (BP4). To our knowledge, this variant has not been reported in the literature in individuals with Pompe disease, and the results of functional studies are not available. There is a ClinVar entry for this variant (Variation ID: 325774). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for Pompe disease. GAA-specific ACMG/AMP criteria applied, as specified by the ClinGen LSD VCEP: PM2_Supporting, BP4. (Classification approved by the ClinGen Lysosomal Diseases VCEP on June 20, 2023).