Sensitive

Malignant hyperthermia susceptibility (RYR1 p.Arg614Cys)

RYR1 · rs118192172

Where this position leads

Condition: Malignant Hyperthermia Susceptibility

Drug: Volatile anaesthetics and succinylcholine

What ClinVar records

Classification Pathogenic; drug response for Malignant hyperthermia, susceptibility to, 1, Malignant hyperthermia of anesthesia, RYR1-related disorder, Inborn genetic diseases, desflurane response - Toxicity and 10 more; reviewed by expert panel (3 of 4 stars, 35 submitters), last evaluated 2021-03-24. ClinVar record 12964 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)

Classification Likely pathogenic for RYR1-related disorder; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-03-23. ClinVar record 544395 NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C The 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/T One 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/T Two 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.

Source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes

Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE

and 3 more — show all

Gordon R, Brandom B, Biesecker LG

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.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Malignant hyperthermia susceptibility (RYR1 p.Arg614Cys) (rs118192172). MyGeneLog™. https://www.mygenelog.com/variants/rs118192172

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