Sensitive

RYR1-related disorder

RYR1 · rs369610397

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

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 Likely pathogenic for RYR1-related disorder, Central core myopathy, Isolated asymptomatic elevation of creatine phosphokinase; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-05-26. ClinVar record 1980358 NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)

Classification Likely benign for RYR1-related disorder; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-12-23. ClinVar record 478261 NM_000540.3(RYR1):c.6856C>T (p.Leu2286=)

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 2026-11-09 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 likely benign for RYR1-related disorder. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000478261, criteria provided, single submitter)

C/T One copy of the version ClinVar lists as likely benign for RYR1-related disorder: labs that looked at it found it probably does not cause the condition. So far only one lab has made this call, so it may change. (ClinVar VCV000478261, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as likely benign for RYR1-related disorder: labs that looked at it found it probably does not cause the condition. So far only one lab has made this call, so it may change. (ClinVar VCV000478261, criteria provided, single submitter)

Source: ClinVar VCV000478261, 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 (rs369610397). MyGeneLog™. https://www.mygenelog.com/variants/rs369610397

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