Given a variant located on Chromosome 17 and affecting COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Osteogenesis imperfecta type I