GENE REFERENCE / HGNC:10483

RYR1

ryanodine receptor 1

protein-coding gene19q13.2Gene information

What does this gene do?

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). This protein is part of a group of related proteins called ryanodine receptors, which form channels that, when turned on (activated), release positively charged calcium atoms (ions) from storage within cells. RYR1 channels play a critical role in muscles used for movement (skeletal muscles).

For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by an increase in the concentration of calcium ions inside muscle cells.

RYR1 channels are located in the membrane surrounding a structure in muscle cells called the sarcoplasmic reticulum. This structure stores calcium ions when muscles are at rest. In response to certain signals, the RYR1 channel releases calcium ions from the sarcoplasmic reticulum into the cell fluid. The resulting increase in calcium ion concentration in muscle cells stimulates muscles to contract, allowing the body to move. The process by which electrical signals trigger muscle contraction is called excitation-contraction (E-C) coupling.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-25. Source review: 2020-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
malignant hyperthermia, susceptibility to, 1MONDO:0007783 · Evaluated 2020-11-25	Autosomal dominant	DefinitiveGeneral Gene Curation Expert Panel
RYR1-related myopathyMONDO:0100150 · Evaluated 2020-07-27	Autosomal recessive	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel
RYR1-related myopathyMONDO:0100150 · Evaluated 2020-10-26	Autosomal dominant	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 11,347
Submissions for variants in or overlapping this gene: 25,807
Submissions explicitly reporting this gene: 25,619
Alleles reported pathogenic / likely pathogenic: 853
VariationIDs with uncertain significance: 5,064
VariationIDs with conflicting classifications: 773

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about RYR1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 853 alleles in RYR1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in RYR1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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