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At least one regulatory, missense, or leaky splice site mutation resulting in expression of ATM with low level kinase activity was identified in subjects with variant A\u2010T. Studies on the pathogenicity of the germline splicing <jats:italic>ATM<\/jats:italic> variant c.1066\u20106T&gt;G have provided conflicting results. Using whole\u2010exome sequencing, we identified two splice site <jats:italic>ATM<\/jats:italic> variants, c.1066\u20106T&gt;G; [p.?], and c.2250G&gt;A, [p.Ile709_Lys750del], in a compound heterozygous state in a 27\u2010year\u2010old woman who had been diagnosed as having congenital ocular motor apraxia type Cogan in her childhood. Reappraisal of her clinical phenotype revealed consistency with variant A\u2010T. Functional analyses showed reduced expression of ATM protein and residual activity of the ATM kinase at a level consistent with variant A\u2010T. Our results provide evidence for pathogenicity of the leaky <jats:italic>ATM<\/jats:italic> splice site variant c.1066\u20106T&gt;G.<\/jats:p>","DOI":"10.1002\/ajmg.a.61870","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T07:40:15Z","timestamp":1600155615000},"page":"2971-2975","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Evidence of pathogenicity for the leaky splice variant c.<scp>1066\u20106T<\/scp>&gt;G\u2009in <scp><i>ATM<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6662-9384","authenticated-orcid":false,"given":"Simone","family":"Schr\u00f6der","sequence":"first","affiliation":[{"name":"Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders University Medical Center G\u00f6ttingen  G\u00f6ttingen 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