A missense variant affecting the same codon CNGA3 c.587 A > G, p.Gln196Arg, was previously reported in an inherited retinal dystrophy patient together with a CNGA3 c.872_873del, p.Thr291Argfs*77 frameshift variant in a compound heterozygous manner [16]. The gene discussed is CNGA3; the disease is Retinal dystrophy.