Given that cysteine at amino acid position 3251 has previously been reported to be mutated to arginine in a family with Usher syndrome (p.Cys3251Arg [11];, we sought to compare the predicted pathogenicity of the novel missense change p.Cys3251Tyr to p.Cys3251Arg (Supplementary Table 1), and to other known pathogenic missense variants in USH2A reported in the ClinVar database to aid novel variant interpretation (Fig. 4B). Here, USH2A is linked to Usher syndrome.