The NM_000152.5:c.1194+5G>A variant is a nucleotide substitution in the dontor splice region of intron in GAA. Three patients with a diagnosis of Pompe disease have been described with this variant, all with late-onset Pompe disease. Residual GAA activity levels were avaiable for one of these patients (PMID: 30770309), and the other two patients were reported to be on enzyme replacement therapy (PMID: 27711114; possible overlap with patients in PMID: 25998610) (PP4_Moderate). One patient is homozygous for the variant (PMID: 30770309) (PM3_Supporting). Two patients are compound heterozygous for the variant and a variant that has been classified as likely pathogenic by the ClinGen LSD VCEP, c.1781G>A (p.Arg594His), phase unknown (PMID: 27711114). The data from these two patients was used in the classification of p.Arg594His and is not included here to avoid circular logic. RT-PCR of RNA from the peripheral blood cells of a patient with Pompe disease who is homozygous for the variant revealed skippping on exon 7 in some transcripts, as well as retention of intron 6 and intron 7, with very low levels of normally-splice RNA, as well as reduced levels of GAA mRNA in general, likely due to nonsense-mediated decay (PMID: 30770309). The splicing predictor SpliceAI predicts loss of the donor splice site (score 0.59), and varSEAK predicts that the variant will have an effect on splicing (class 5) (PP3). The is a ClinVar entry for this variant (Variation ID: 930445). In summary, this variant meets the criteria to be classified as likely pathogenic for Pompe disease. GAA-speciofic ACMG-AMP criteria applied, as specified by the ClinGen Lysosomal Storage Disorders VCEP (Specifications Verions 2.0): PP4_Moderate, PP3, PS3_Suporting, PM2_Supporting PM3_Supporting. (Classification approved by the ClinGen LSD VCEP on December 6, 2022)