rs121918592

This is a missense variant in the RYR1 gene.

Key Literature Trait Associations

Malignant Hyperthermia Susceptibility

RYR1 R614C is one of the most common malignant hyperthermia (MH) susceptibility mutations, affecting the ryanodine receptor 1 in skeletal muscle. Carriers experience potentially fatal hypermetabolic crisis — characterized by rapidly rising body temperature, muscle rigidity, and metabolic acidosis — when exposed to volatile anesthetics (sevoflurane, desflurane) or succinylcholine. Pre-surgical genetic screening can be lifesaving, as non-triggering anesthetics (such as propofol and opioids) must be used for MH-susceptible individuals.

Ramser K et al. “A combined micro-resonance Raman and absorption set-up enabling in vivo studies under varying physiological conditions: The nerve globin in the nerve cord of Aphrodite aculeata.” Journal of Biochemical and Biophysical Methods 70(4):627-633 (2007)
Allele T
OR —
p —
Candidate gene study
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ClinVar annotation

Pathogenic★★★★
14 submitters29 publications

Malignant hyperthermia, susceptibility to, 1; not provided; RYR1-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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Aktuelle Aspekte der Diagnostik der malignen Hyperthermie
Case reportN=1,456Rüffert H. et al.(2002)· Der Anaesthesist

This is a retrospective clinical and molecular genetic study of 1,456 patients with suspected malignant hyperthermia (MH) evaluated at the Leipzig MH Center from 1986-2001. The in vitro contracture test (IVCT) identified 376 MH-susceptible (MHS), 121 MH-equivocal (MHE), and 921 MH-negative (MHN) individuals. Molecular genetic screening of the RYR1 gene in 99 families identified mutations in 46 families (46.5%), including 18 different mutations, of which 4 (Arg401Cys, Ile2182Phe, Gly2375Ala, Ile2453Thr) were novel. The study demonstrates that RYR1 molecular testing complements IVCT for comprehensive MH diagnostics and can clarify unusual cases including de novo mutations and homozygous mutation carriers.

Traits studied:Malignant hyperthermia susceptibility
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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