Assess the clinical impact of this variant on gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Osteogenesis imperfecta type I