The splicing subgroup of the ClinGen Sequence Variant Interpretation Working Group provides recommendations on how to evaluate splicing variant data in the American Journal of Human Genetics this week. Though the American College of Medical Genetics and Genomics and the Association for Molecular Pathology established a framework in 2015 for classifying variants, the authors of the new paper note that the application of these guidelines by variant curation expert panels has varied. In their paper, the working group offers a standardized guidance on how to apply evidence codes to splicing predictions, splicing assays, and other functional data. "We describe generic protocols useful for assigning strength levels to different evidence criteria to facilitate recalibration of code strengths as new information accrues," the subgroup writes. "We also provide a generic decision tree to guide variant assessment with combinations of evidence codes relating to variant location, splicing predictions, splicing assay data, and variant type."
Splicing Subgroup Provides Protocols for Evaluating Splicing Variant Data
Jun 23, 2023