The patient in case 14_63, her maternal uncle with AD, and her unaffected sister had a heterozygous variant in TGFB3, NM_003239.5:c.412T>G, classified as a VUS on ClinVar for Rienhoff syndrome (Loeys–Dietz syndrome 5) resulting in a p.Ser138Ala. This evidence concerns the gene TGFB3 and Alzheimer disease.