Protein-truncating variants

Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation. 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.
It was believed that protein-truncating variants are not associated with human diseases, but recent studies have implied the involvement of PTVs in diseases like the autism spectrum disorder.