Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

ABSTRACT: The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide decision-making pathways assimilating information about variant type, its location, or any additional evidence for the likelihood of a true null effect. Furthermore, this guideline did not take into account the relative strengths for each evidence type and the final outcome of their combinations with respect to PVS1 strength. Finally, criteria specifying the genes for which PVS1 can be applied are still missing

SUBMITTER: Abou Tayoun AN 

PROVIDER: S-EPMC6185798 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature