eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria

The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) have suggested criteria for variant pathogenicity classification. The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel (VCEP) has specified the ACMG/AMP criteria for variants in RYR1 associated with MHS. The specified criteria, and a pilot analysis of 84 variants, have been published. Here we have updated the specified criteria and expanded the set of RYR1 variants classified for pathogenicity using the RYR1-specific ACMG/AMP criteria.