COL1A1 and osteogenesis imperfecta type 1: We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains.<h4>Conclusion</h4>We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain.