Two cases were identified with homozygous variant of uncertain significance (VUS) in COL1A1 gene and SERPINF1 gene; it is interesting to note that the case 1.1.5 with COL1A1 who had homozygous VUS also exhibited additional clinical features like dentinogenesis imperfecta, slurred speech, dysmorphism and mild scoliosis indicating the severity likely caused due to homozygosity. Here, COL1A1 is linked to dentinogenesis imperfecta.