A variant has been detected on Chromosome 17 in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Osteogenesis imperfecta type I