The NM_000152.5:c.2015G>T variant in GAA is a missense variant that results in the substitution of an arginine for a leucine at amino acid 672 (p.Arg672Leu). One Indian patient with late onset Pompe disease has been reported, with <1% normal GAA activity in skin fibroblasts, and muscle histology consistent with the condition (PMID: 33741225) (PP4_Moderate). This individual is compound heterozygous for the variant and another variant in GAA that has been classified as likely pathogenic for Pompe disease by the ClinGen LD VCEP, c.2783A>G (p.Tyr928Cys); phase unconfirmed (0.25 points) (Insufficient to apply PM3). The variant is absent in gnomAD v4.1.0. (PM2_Supporting). Two other variants at the same amino acid position have been classified as pathogenic (c.2014C>T, p.Arg672Trp, ClinVar Variation ID: 188773) or likely pathogenic (c.2015G>A p.Arg672Gln, ClinVar Variation ID: 371126) for Pompe disease by the ClinGen LD VCEP (PM5). The computational predictor REVEL gives a score of 0.955 which is above the threshold of 0.7, evidence that correlates with impact to GAA function (PP3). SpliceAI predicts no impact on splicing. There is a ClinVar entry for this variant (Variation ID: 2675756) with one submitter classifying the variant as pathogenic. In summary, these variant meets the criteria to be classified a likely pathogenic for Pompe disease. GAA-specific ACMG/AMP criteria applied, as specified by the ClinGen LD VCEP (Specifications Version 2.0.0.): PM5, PP4_Moderate, PP3, PM2_Supporting (Classification approved by the ClinGen Lysosomal Diseases Variant Curation Expert Panel, August 31, 2025)