C/CThe reference base. Absence of this variant does not rule out malignant hyperthermia susceptibility — hundreds of RYR1 variants have been described and this is one of them.
C/TOne copy of a variant classified as causing malignant hyperthermia susceptibility. Inheritance is autosomal dominant, so one copy is enough. This is not a disease you have; it is a reaction that happens only under general anaesthesia with specific agents, and it is preventable by using different ones.
T/TTwo copies. As above; one copy is already sufficient for susceptibility.
Susceptibility is established by contracture testing at a specialist centre, and a genotype suggesting it should go to an anaesthetist rather than into a personal record. What changes is the choice of anaesthetic agent — not whether surgery is safe.
Clinical pharmacology and therapeutics · 2019 · PMID 30499100
Questions about rs118192172
What is rs118192172?
rs118192172 is a single position in the genome, in or near the RYR1 gene. Published research associates it with malignant hyperthermia susceptibility (ryr1 p.arg614cys). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs118192172 linked to?
On MyGeneLog this position is linked to Malignant Hyperthermia Susceptibility. The research behind each link, and its sources, are set out on that condition page.
Does rs118192172 affect how medicines work?
RYR1 carries pharmacogenomic findings for Volatile anaesthetics and succinylcholine. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Does having rs118192172 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs118192172 come from?
CPIC Guideline for CACNA1S, RYR1 and Volatile Anesthetic Agents and Succinylcholine (Clin Pharmacol Ther 2019, PMID 30499100). Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.