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The role of <jats:italic>AMOTL1<\/jats:italic> in human disease is equivocal. We report a large cohort of individuals harboring heterozygous <jats:italic>AMOTL1<\/jats:italic> variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals with variants in <jats:italic>AMOTL1<\/jats:italic> affecting amino acids 157\u2013161, a functionally undefined but highly conserved region. Three individuals with <jats:italic>AMOTL1<\/jats:italic> variants outside this region are also described who had variable presentations with orofacial clefting and multi\u2010organ disease. Our case cohort suggests that heterozygous missense variants in <jats:italic>AMOTL1<\/jats:italic>, most commonly affecting amino acid residues 157\u2013161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.<\/jats:p>","DOI":"10.1002\/ajmg.a.63130","type":"journal-article","created":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T05:37:33Z","timestamp":1675834653000},"page":"1227-1239","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A mutational hotspot in <scp><i>AMOTL1<\/i><\/scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9261-244X","authenticated-orcid":false,"given":"Alanna","family":"Strong","sequence":"first","affiliation":[{"name":"The Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia 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