A classification of more than 2,200 unique variants of the ABCA-4 gene will improve diagnosis and genetic counseling for ABCA4-associated retinopathy, including Stargardt disease, according to results published in Human Mutation. Frans PM Cremers, PhD, and colleagues examined 2,246 unique variants and determined that 1,248 variants had a pathogenic or likely pathogenic classification, while 194 variants had a benign or likely benign classification. They determined the remaining 804 were variants of uncertain significance, which is an increase compared with a classification from 2017. In addition to including 1,419 more variants, the new classification also recategorizes 93 variants as variants of uncertain significance; these 93 variants were classified as something else in 2017. “The adapted ACMG/AMP classifications provided in this study, in combination with the earlier established severity assessments for ABCA4 variants, will facilitate the interpretation of diagnostic results for ABCA4- [associated retinopathy], the most common recessive retinal disease,” Dr. Cremers and colleagues wrote.
