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Mutations in  PRPH2 , encoding peripherin‐2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many  PRPH2  variants that have been discovered over the last decades, we surveyed all published  PRPH2  variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel  PRPH2  variants in eight additional index patients. The pathogenicity of all variants was determined using the ACMG guidelines. With this, 107 variants were classified as pathogenic, 92 as likely pathogenic, one as benign, and two as likely benign. The remaining 50 variants were classified as variants of uncertain significance. Interestingly, of the total 252  PRPH2  variants, more than half ( n  = 137) were missense variants. All variants were uploaded into the Leiden Open source Variation and ClinVar databases. Our study underscores the need for experimental assays for variants of unknown significance to improve pathogenicity classification, which would allow us to better understand genotype‐phenotype correlations, and in the long‐term, hopefully also support the development of therapeutic strategies for patients with  PRPH2 ‐associated IRD.

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease