Calibrating a functional assay for variant classification in <i>RYR1</i> -related malignant hyperthermia susceptibility
Formal validation of the caffeine-induced Ca2+ release assay supports the VCEP functional criteria weighting at moderate strength based on these data. Additional variants should be assayed to shift more from VUS to benign or pathogenic classifications.
Authors
- Amber Douglass (ORCID: https://orcid.org/0000-0003-4634-512X)
- Linda Groom (ORCID: https://orcid.org/0000-0003-4856-7295)
- Marwan A. Hawari (ORCID: https://orcid.org/0000-0003-2770-8634)
- Jennifer J. Johnston (ORCID: https://orcid.org/0000-0002-1012-6358)
- Robert T. Dirksen (ORCID: https://orcid.org/0000-0002-3182-1755)
- Leslie G. Biesecker (ORCID: https://orcid.org/0000-0002-0197-3811)
- Kathryn M. Stowell (ORCID: https://orcid.org/0000-0002-5574-7211)
- Evan Z Ying (ORCID: https://orcid.org/0009-0004-4629-9826)
Institutions
- National Institutes of Health (US)
- George Washington University (US)
- University of Rochester Medical Center (US)
- National Human Genome Research Institute (US)
- Massey University (NZ)
Publication Details
- Journal
- Human Molecular Genetics
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1093/hmg/ddaf038
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00