Protein-truncating variants

Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes,^[1] through ways like a stop-gain mutation.^[2][3][4][5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.

Implication in diseases/disorders

It was believed that protein-truncating variants are not associated with human diseases.^[2] Recent studies have implied the involvement of PTVs in autism spectrum disorder.^[6]