Sensitive

RYR1-related disorder

RYR1 · rs193922843

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

4 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 3 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; drug response for isoflurane response - Toxicity, sevoflurane response - Toxicity, desflurane response - Toxicity, enflurane response - Toxicity, halothane response - Toxicity and 4 more; reviewed by expert panel (3 of 4 stars, 4 submitters), last evaluated 2022-09-08. ClinVar record 133027 NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)

Classification Uncertain significance for RYR1-related disorder; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-04-25. ClinVar record 836110 NM_000540.3(RYR1):c.11969G>C (p.Gly3990Ala)

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 2026-11-01 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 Two copies of the version ClinVar lists as of uncertain significance for RYR1-related disorder: labs cannot yet say whether it causes the condition. An uncertain result is not a diagnosis; a doctor or genetic counsellor can say whether any further test is worth doing. So far only one lab has made this call, so it may change. (ClinVar VCV000836110, criteria provided, single submitter)

C/G One copy of the version ClinVar lists as of uncertain significance for RYR1-related disorder: labs have looked at it and cannot yet say whether it causes the condition. An uncertain result is not a diagnosis, and medical guidelines say it should not be used on its own to make health decisions. So far only one lab has made this call, so it may change. (ClinVar VCV000836110, criteria provided, single submitter)

G/G No copy of the version ClinVar lists as of uncertain significance for RYR1-related disorder. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000836110, criteria provided, single submitter)

Source: ClinVar VCV000836110, criteria provided, single submitter

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 disorder (rs193922843). MyGeneLog™. https://www.mygenelog.com/variants/rs193922843

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