Similar to other truncating GNAT1 variants, such as p.(Gln302*) [94] and p.(Cys321*) [95], which have been associated with lifelong night blindness and late-onset RP, the p.(Arg253Profs*56) variant likely results in a loss of function of the transducin alpha subunit. This evidence concerns the gene GNAT1 and retinitis pigmentosa 1.