Based on the ACMG guidelines for genetic variant classification [21], this deletion meets one very strong pathogenic evidence (the deletion may cause nonsense-mediated mRNA decay), one moderate pathogenic evidence (variant not reported on Decipher (https://www.deciphergenomics.org/) and IGV (https://igv.org)) and one supporting evidence (the patient’s phenotype is consistent with the phenotype caused by FBN1 in MFS), namely PVS1 + PM2_Supporting+PP4. The gene discussed is FBN1; the disease is Marfan syndrome.