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RYR1-related myopathy

RYR1 · rs556749534

Where this position leads

Drug: Volatile anaesthetics and succinylcholine

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 of 4 stars.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Likely pathogenic for RYR1-related myopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-12-20. ClinVar record 2674604 NM_000540.3(RYR1):c.3178+587A>G

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

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

A/A No copy of the version ClinVar lists as likely disease-causing for RYR1-related myopathy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV002674604, criteria provided, single submitter)

A/G One copy of the version ClinVar lists as likely disease-causing for RYR1-related myopathy. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV002674604, criteria provided, single submitter)

G/G Two copies of the version ClinVar lists as likely disease-causing for RYR1-related myopathy. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV002674604, criteria provided, single submitter)

Source: ClinVar VCV002674604, criteria provided, single submitter

Questions about rs556749534

What is rs556749534?

rs556749534 is a single position in the genome, in or near the RYR1 gene. Published research associates it with ryr1-related myopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs556749534 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 rs556749534 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 rs556749534 come from?

ClinVar VCV002674604, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

RYR1-related myopathy (rs556749534). MyGeneLog™. https://www.mygenelog.com/variants/rs556749534

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