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Using the ACMG/AMP Framework to Capture Evidence Related to Predicted and Observed Impact on Splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Wednesday, April 3, 2024
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

Due to a lack of guidance in how to apply ACMG/AMP criteria codes for the splicing potential of variants, the ClinGen Sequence Variant Interpretation Splicing Subgroup was established to refine recommendations for applying ACMG/AMP codes relating to splicing data and computational predictions. In this publication (PMID: 37352859), we utilized empirically derived splicing evidence to (1) determine the evidence weighting of splicing-related data and appropriate criteria code selection for general use, (2) outline a process for integrating splicing-related considerations when developing a gene-specific PVS1 decision tree, and (3) exemplify methodology to calibrate splice prediction tools. These recommendations for consideration and evaluation of RNA-assay evidence described aim to help standardize variant classification processes when interpreting splicing-based evidence.

Level of Instruction: Intermediate

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Steven Harrison
Laboratory Director at Ambry Genetics
Steven Harrison, PhD, FACMG, is a board-certified molecular geneticist working as a Laboratory Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which […]

Steven Harrison, PhD, FACMG, is a board-certified molecular geneticist working as a Laboratory Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center and completed his ABMGG Clinical Molecular Genetics and Genomics fellowship in 2018 at Harvard Medical School.

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Margo Gallegos
Genomic Science Liaison at Ambry Genetics
Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and […]

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.