This variant, c.688G>A (p.Val230Met), is a missense substitution which has a highest population minor allele frequency in gnomAD (https://gnomad.broadinstitute.org/) of 0.002261 in the African population. This allele frequency meets neither the PM2 allele frequency threshold (<0.001) nor the BS1 allele frequency threshold (>0.005) specified by the ClinGen LSD VCEP. To our knowledge, this variant has not been reported in the literature in individuals with Pompe disease, and results of experimental studies are not available. However, there is a ClinVar entry for this variant (Variation ID 196222) in which one of five submitters reported this variant in an individual with Pompe disease. However, further clinical and laboratory testing details are unavailable. No clinical details are available for the other 4 submitters. Computational analysis, using the meta-predictor REVEL, suggested that this variant does not impact GAA function. The REVEL score, 0.482, meets the threshold for BP4 (<0.5) specified by the ClinGen LSD VCEP. In summary, this variant meets the criteria to be classified as a “Variant of Unknown Significance” for Pompe disease due to insufficient evidence. GAA-specific ACMG/AMP criteria applied, as specified by the ClinGen LSD VCEP: BP4.