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While involvement of all <jats:italic>AMOT<\/jats:italic>s in development or suppression of cancers is relatively well described, little is known about the congenital phenotype of pathogenic variants in these genes in humans. Recently, a heterozygous variant in <jats:italic>AMOTL1<\/jats:italic> was published in association with orofacial clefts and cardiac abnormalities in an affected father and his daughter. However, studies in mice did not recapitulate the human phenotype and the case was summarized as inconclusive. We present a female infant with cleft lip and palate, imperforate anus and dysmorphic features, in whom trio exome sequencing revealed a de novo variant in <jats:italic>AMOTL1<\/jats:italic> affecting a highly conserved amino acid (c.479C&gt;T; p.[Pro160Leu]). Bioinformatic predictions and in silico modeling supported pathogenicity. This case reinforces the conjecture regarding the disruptive effect of pathogenic variants in <jats:italic>AMOTL1<\/jats:italic> on organ formation in humans. Studies of additional families will reveal the full phenotypic spectrum associated with this multiple malformation syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61901","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T16:09:55Z","timestamp":1602086995000},"page":"190-195","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["De novo variant in <i>AMOTL1<\/i> in infant with cleft lip and palate, imperforate anus and dysmorphic features"],"prefix":"10.1002","volume":"185","author":[{"given":"Jonathan","family":"Rips","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagar","family":"Mor\u2010Shaked","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah\u2010Hebrew University Medical Center  Jerusalem 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