Standard

Malignant hyperthermia, susceptibility to, 5

CACNA1S · rs1287079817

Where this position leads

Drug: Volatile anaesthetics and succinylcholine

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 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 Pathogenic/Likely pathogenic for Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2023-05-08. ClinVar record 692246 NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)

Classification Pathogenic for Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-10-01. ClinVar record 473979 NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys)

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

C/C No copy of the version ClinVar lists as disease-causing for Malignant hyperthermia, susceptibility to, 5. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000473979, criteria provided, single submitter)

C/T One copy of the version ClinVar lists as disease-causing for Malignant hyperthermia, susceptibility to, 5. 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 VCV000473979, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as disease-causing for Malignant hyperthermia, susceptibility to, 5. 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 VCV000473979, criteria provided, single submitter)

Source: ClinVar VCV000473979, criteria provided, single submitter

Questions about rs1287079817

What is rs1287079817?

rs1287079817 is a single position in the genome, in or near the CACNA1S gene. Published research associates it with malignant hyperthermia, susceptibility to, 5. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs1287079817 affect how medicines work?

CACNA1S 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 rs1287079817 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 rs1287079817 come from?

ClinVar VCV000473979, 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

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Malignant hyperthermia, susceptibility to, 5 (rs1287079817). MyGeneLog™. https://www.mygenelog.com/variants/rs1287079817

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