Individual 2, a 6‐month‐old South Asian (Indian) female diagnosed with microphthalmia and optic disc coloboma in the left eye and isolated congenital cataract in the right eye, was found to have a heterozygous missense variant in MAB21L1, c.184C>T p.(Arg62Cys) (Figure 1 and Table 1). This evidence concerns the gene MAB21L1 and coloboma of optic nerve.