The c.1934G>A, p.(Cys645Tyr) is a missense variant with a highly deleterious effect, whereas the 2197A>G, p.(Lys733Glu) variant alters the conserved C-terminal KDEL motif of P3H1, necessary for ER retention of the protein, similarly to OI type 3 patients, as described by Takagi et al. [27]. The gene discussed is P3H1; the disease is osteogenesis imperfecta type 3.