The ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification
20 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
515 AB
Laboratory Genetics and Genomics
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Accredited:
- Accredited
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Primary Categories:
- Laboratory Genetics
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Secondary Categories:
- Laboratory Genetics
In this session, we will explore the forthcoming SVC v4.0 Standards from the American College of Medical Genetics and Genomics (ACMG), the latest iteration in classifying the pathogenicity of variants linked to Mendelian disorders. SVC v4.0 retains the familiar variant classification categories (P/LP/VUS/LB/B) while introducing a points-based framework for evidence assessment, based on a Bayesian approach. Evidence codes have been simplified with recognizable abbreviations and integer-based strength indicators. The framework categorizes evidence into two main types: Human Observational Data and Predictive and Functional Data. SVC v4.0 provides detailed guidance on evaluating human observational data, including allele frequency thresholds and matrices for assessing well-phenotyped individuals. It also offers decision trees to guide the assessment of predictive and functional data, from computational predictions to experimental validations. The session will cover these key components of SVC v4.0, ensuring a comprehensive understanding of the new standards.
Learning Objectives
- Identify differences in the 2015 framework versus the upcoming v4 version of the standards
- Review the difference between data that implicates a variant versus data that implicates a locus
- Evaluate variant type decision trees to understand the different components and weighting involved
- Classify a sequence variant using v4.0 of the guideline
Agenda
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Welcome and Introduction1:30 PM – 1:40 PM -
Overview of SVC v4.0 Standards1:40 PM – 2:00 PM -
Human Observational Data2:00 PM – 2:20 PM -
Predictive and Functional Data2:20 PM – 2:40 PM -
Piloting SVC v4.02:40 PM – 3:00 PM -
Panel DiscussionPanel Discussion and Q&A3:00 PM – 3:30 PM
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