A genetic alteration is present in COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Osteogenesis imperfecta type I