The VUS (c.4123G>A, p.Ala1375Thr) and likely pathogenic (c.2035G>A, p.Gly679Ser) variants were identified de novo in the COL1A1 and COL1A2 genes, respectively, and were associated with clinically moderate signs of type III OI in the patients. The gene discussed is COL1A1; the disease is osteogenesis imperfecta type 3.