genomic variant interpretation
Process of determining clinical significance of genetic changes identified through sequencing. Follows standardized classification guidelines.
Full Definition
The systematic evaluation and classification of genetic variants identified through molecular testing to determine their clinical significance and relevance to human health. This process involves analyzing multiple lines of evidence including population frequency data, computational predictions, functional studies, segregation analysis, and literature review. Variant interpretation follows standardized guidelines established by professional organizations such as the American College of Medical Genetics and Genomics (ACMG), which classify variants into five categories: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. The interpretation process is critical for accurate diagnosis, risk assessment, and clinical management decisions.
Usage
Usage note: Emphasize the evidence-based nature of the interpretation process in clinical communications.
In Context
- "Genomic variant interpretation required review of segregation data from three affected family members." — Laboratory case conference
- "The molecular pathologist followed ACMG guidelines for genomic variant interpretation and classification." — Laboratory standard operating procedure