This variant, c.1824_1828dup (p.Ala610AspfsTer88), is a frameshift variant that is predicted to result in a premature termination codon, nonsense mediated decay, and lack of gene product. Therefore, PVS1 can be applied. The variant is absent in gnomAD v2.1.1, meeting PM2. A patient with infantile onset Pompe disease, meeting the ClinGen LSD VCEP’s specifications for PP4 has been reported who is homozygous for the variant (PMID 24976573). This data meets PM3_Supporting. There is a ClinVar entry for this variant (Variation ID: 370866, 1 star review status) with one submitter classifying the variant as likely pathogenic. In summary, this variant meets the criteria to be classified as pathogenic for Pompe disease. ACMG/AMP criteria applied, as specified by the ClinGen LSD VCEP: PVS1, PM2, PM3_Supporting, PP4.