2011; Aboshiha et al. 2015) produces a truncated protein lacking the C‐terminal 107 amino acids, including most of the TPR3 domain, disrupting AIPL1‐NUB1 binding and forming cytoplasmic inclusions (van der Spuy et al. 2002; Kanaya et al. 2004). Sohocki et al. (2000) detected the c.[834G>A];[c.277‐2A>G] combination in one LCA individual of French ethnicity. Splice site assays indicate that the c.277‐2A>G variant abolishes the intron two splice acceptor site and deletes exon 3, and may alter the transcript profile in this tissue (Bellingham et al. 2015). This evidence concerns the gene NUB1 and Leber congenital amaurosis.