The synonymous c.3156C>T (p.(Gly1052 =)) variant in COL17A1 has been determined to be pathogenic by Jonsson and colleagues.[11] After using WES to identify a missense mutation in COL17A1 that segregated with the affected phenotype in a large family with epithelial recurrent erosion dystrophy (ERED), they reexamined the potential role of COL17A1 in chromosome 10q23-q24 linked corneal dystrophy. This evidence concerns the gene COL17A1 and corneal dystrophy.