Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility
Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Philip Morgan Hopkins, Natalia Kraeva, Ognoon Mungunsukh, K. Bailey Radenbaugh, Sheila Riazi, Rachel L. Robinson, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn M. Stowell, James L. Weber, , Leslie G. Biesecker
The paper updates ACMG/AMP criteria for RYR1-related MHS and classifies 251 variants, finding that many VUS classifications lack sufficient evidence and suggesting functional studies are needed.
Human Molecular Genetics · Jul 15, 2022Peer-reviewedGenetics