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Discipline Group Session

CLIN

DG19--Everything You Ever Wanted to Know (& more!) About CFTR Variant Interpretation

Friday, October 24, 2025
7:45 AM - 9:45 AM PDT
Location: 447-448
Food Available for Session Attendees
Genetic testing is a critical aspect of the CF diagnostic workup. Variant interpretation is an essential, yet often challenging and ambiguous, component of the genetic testing process. In this session, we will explore how laboratories classify variants utilizing the framework derived from the American College of Medical Genetics and Genomics (ACMG), use available resources and datasets, and convey information to the ordering provider. Despite widespread use of the ACMG variant classification framework among clinical testing laboratories, discrepant classifications and inconclusive results are common. This session will review the ACMG methodology and the relationship to overall genetic test interpretation. CFTR-specific considerations will be discussed, as well as a review of additional resources for future genetic test interpretation resolution, such as novel technologies and ClinGen expert panel working groups. The CF Mutation Analysis Program (MAP) will be highlighted in the context of unique methodology and interpretation considerations for this specialty testing program. This session will also contain an interactive live walkthrough of the variant interpretation process.

Learning Objectives:

  • Formulate the classification of a CFTR variant utilizing the ACMG standards for Variant Interpretation, and examine the relationship of a classified variant to the broader impact of a genetic testing report
  • Compare and contrast the benefits and limitations of existing databases to interpret genetic variants
  • Identify methodologies and existing initiatives for further variant reconciliation and interpretation harmonization