ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.[10097G>A;11798A>G4711A>G]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000540.3(RYR1):c.[10097G>A;11798A>G4711A>G]
- Other names
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- Functional consequence
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- Links
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8904 | 9218 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Likely pathogenic (1) |
criteria provided, single submitter
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- | RCV004556967.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular cardiomyopathy
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Medical University Innsbruck
Accession: SCV005045801.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Actionable Genotypes and Their Association with Life Span in Iceland. | Jensson BO | The New England journal of medicine | 2023 | PMID: 37937776 |
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders. | Granger A | Neuromuscular disorders : NMD | 2023 | PMID: 36628841 |
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders. | Granger A | Neuromuscular disorders : NMD | 2023 | PMID: 36628841 |
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders. | Granger A | Neuromuscular disorders : NMD | 2023 | PMID: 36628841 |
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. | Fusto A | Acta neuropathologica communications | 2022 | PMID: 35428369 |
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. | Fusto A | Acta neuropathologica communications | 2022 | PMID: 35428369 |
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. | Fusto A | Acta neuropathologica communications | 2022 | PMID: 35428369 |
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. | Marinakis NM | American journal of medical genetics. Part A | 2021 | PMID: 34008892 |
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. | Marinakis NM | American journal of medical genetics. Part A | 2021 | PMID: 34008892 |
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. | Marinakis NM | American journal of medical genetics. Part A | 2021 | PMID: 34008892 |
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. | Kushnir A | Acta neuropathologica | 2020 | PMID: 32236737 |
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. | Kushnir A | Acta neuropathologica | 2020 | PMID: 32236737 |
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. | Kushnir A | Acta neuropathologica | 2020 | PMID: 32236737 |
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study. | Rubegni A | Neurology. Genetics | 2019 | PMID: 31517061 |
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study. | Rubegni A | Neurology. Genetics | 2019 | PMID: 31517061 |
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study. | Rubegni A | Neurology. Genetics | 2019 | PMID: 31517061 |
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. | Garibaldi M | Acta neuropathologica communications | 2019 | PMID: 30611313 |
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. | Garibaldi M | Acta neuropathologica communications | 2019 | PMID: 30611313 |
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. | Garibaldi M | Acta neuropathologica communications | 2019 | PMID: 30611313 |
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. | Suman M | Human molecular genetics | 2018 | PMID: 29701772 |
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. | Levano S | Neuromuscular disorders : NMD | 2017 | PMID: 28259615 |
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. | Levano S | Neuromuscular disorders : NMD | 2017 | PMID: 28259615 |
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. | Levano S | Neuromuscular disorders : NMD | 2017 | PMID: 28259615 |
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. | Snoeck M | European journal of neurology | 2015 | PMID: 25960145 |
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. | Snoeck M | European journal of neurology | 2015 | PMID: 25960145 |
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. | Snoeck M | European journal of neurology | 2015 | PMID: 25960145 |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. | Kraeva N | Neuromuscular disorders : NMD | 2015 | PMID: 25958340 |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. | Kraeva N | Neuromuscular disorders : NMD | 2015 | PMID: 25958340 |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. | Kraeva N | Neuromuscular disorders : NMD | 2015 | PMID: 25958340 |
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. | Gillies RL | Anaesthesia and intensive care | 2015 | PMID: 25735680 |
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. | Gillies RL | Anaesthesia and intensive care | 2015 | PMID: 25735680 |
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. | Gillies RL | Anaesthesia and intensive care | 2015 | PMID: 25735680 |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. | Fiszer D | Anesthesiology | 2015 | PMID: 25658027 |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. | Fiszer D | Anesthesiology | 2015 | PMID: 25658027 |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. | Fiszer D | Anesthesiology | 2015 | PMID: 25658027 |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. | Savarese M | Acta neuropathologica communications | 2014 | PMID: 25214167 |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. | Savarese M | Acta neuropathologica communications | 2014 | PMID: 25214167 |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. | Savarese M | Acta neuropathologica communications | 2014 | PMID: 25214167 |
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. | Rocha J | Pediatric neurology | 2014 | PMID: 24950660 |
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. | Rocha J | Pediatric neurology | 2014 | PMID: 24950660 |
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. | Rocha J | Pediatric neurology | 2014 | PMID: 24950660 |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. | Brandom BW | Anesthesia and analgesia | 2013 | PMID: 23558838 |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. | Maggi L | Neuromuscular disorders : NMD | 2013 | PMID: 23394784 |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. | Maggi L | Neuromuscular disorders : NMD | 2013 | PMID: 23394784 |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. | Maggi L | Neuromuscular disorders : NMD | 2013 | PMID: 23394784 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. | Klein A | Human mutation | 2012 | PMID: 22473935 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. | Klein A | Human mutation | 2012 | PMID: 22473935 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. | Klein A | Human mutation | 2012 | PMID: 22473935 |
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. | Duarte ST | Muscle & nerve | 2011 | PMID: 21674524 |
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. | Duarte ST | Muscle & nerve | 2011 | PMID: 21674524 |
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. | Tammaro A | Clinical genetics | 2011 | PMID: 20681998 |
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. | Tammaro A | Clinical genetics | 2011 | PMID: 20681998 |
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. | Gillies RL | Anaesthesia and intensive care | 2008 | PMID: 18564801 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/7e5308e9-be2e-421c-9452-621eebb03784 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9fc90212-f5da-4a79-b8a1-355b92454a8f | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.