Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology

According to ACMG guidelines, both variants remain classified as variants of uncertain significance, but their rarity, predicted functional impact and consistent co-occurrence in affected individuals support them as strong candidate variants that may jointly contribute to CC in this family and expand the spectrum of GJA3- and CRYBA1-associated changes.