ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
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.
Pathogenic(16); Likely pathogenic(1); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
Variation ID: 159856 Accession: VCV000159856.53
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.2 19: 38496466 (GRCh38) [ NCBI UCSC ] 19: 38987106 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 23, 2014 Apr 20, 2024 Feb 5, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000540.3:c.6721C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000531.2:p.Arg2241Ter nonsense NM_001042723.2:c.6721C>T NP_001036188.1:p.Arg2241Ter nonsense NC_000019.10:g.38496466C>T NC_000019.9:g.38987106C>T NG_008866.1:g.67767C>T LRG_766:g.67767C>T LRG_766t1:c.6721C>T - Protein change
- R2241*
- Other names
- RYR1, ARG2241TER (rs200563280)
- Canonical SPDI
- NC_000019.10:38496465:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00015
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 30x 0.00031
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
8820 | 9127 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
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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Pathogenic (9) |
criteria provided, multiple submitters, no conflicts
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Apr 18, 2022 | RCV000147436.32 | |
Likely benign (1) |
no assertion criteria provided
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Jun 1, 2014 | RCV000148787.10 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 6, 2022 | RCV000171129.18 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Feb 5, 2024 | RCV000178453.14 | |
Pathogenic (1) |
criteria provided, single submitter
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May 8, 2019 | RCV000263175.15 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 21, 2024 | RCV000525302.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 16, 2019 | RCV001257398.9 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Feb 28, 2020 | RCV001530191.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 27, 2021 | RCV002505131.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
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
Help
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
Help
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
Help
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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Pathogenic
(Nov 05, 2013)
|
criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal unknown)
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000194849.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Pathogenic
(Dec 23, 2013)
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criteria provided, single submitter
Method: clinical testing
|
Minicore myopathy with external ophthalmoplegia
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
maternal
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Baylor Genetics
Study: Adult_WES
Accession: SCV000245532.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant [T4709M] in a 25-year-old … (more)
This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant [T4709M] in a 25-year-old female with motor delays, tinnitus, vertigo, central hypotonia, peripheral hypertonia, pes cavus, dysmorphisms, microcephaly, ophthalmoplegia, supraventricular tachycardia, scoliosis, lordosis (less)
Number of individuals with the variant: 1
Age: 20-29 years
Sex: female
Ethnicity/Population group: Ashkenazi Jew
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Pathogenic
(Jul 01, 2013)
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criteria provided, single submitter
Method: research
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Malignant hyperthermia, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000265719.1 First in ClinVar: Mar 12, 2016 Last updated: Mar 12, 2016 |
Number of individuals with the variant: 2
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Pathogenic
(May 19, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000609573.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(Jun 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000852727.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(Feb 19, 2015)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000230536.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Pathogenic
(May 08, 2019)
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criteria provided, single submitter
Method: clinical testing
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Neuromuscular disease
Central core myopathy (Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000711660.3
First in ClinVar: Apr 09, 2018 Last updated: Jul 06, 2020 |
Comment:
The p.Arg2241X variant in RYR1 has been reported in at least 6 individuals with myopathy in the compound heterozygous state (Illingworth 2014, Zhou 2010, Klein … (more)
The p.Arg2241X variant in RYR1 has been reported in at least 6 individuals with myopathy in the compound heterozygous state (Illingworth 2014, Zhou 2010, Klein 2012, Todd 2018) and in several homozygous affected members of one family with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (McKie 2014). This nonsense variant leads to a premature termination codon at position 2241, which is predicted to lead to a truncated or absent protein. This variant has also been reported in ClinVar (Variation ID 159856). This variant was also identified in 23/10348 of Ashkenazi Jewish and in 18/128888 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org/). However, this frequency is low enough to be consistent with a recessive carrier frequency. In vitro functional studies provide further evidence that this variant causes nonsense mediated RNA decay (Zhou 2010). Loss of function in the RYR1 gene is associated with myopathies including central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive RYR1-related myopathy. ACMG/AMP Criteria applied: PVS1, PM3_Very strong, PP1_moderate. (less)
Number of individuals with the variant: 3
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Pathogenic
(Oct 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Congenital multicore myopathy with external ophthalmoplegia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002600320.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Comment:
Variant summary: RYR1 c.6721C>T (p.Arg2241X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: RYR1 c.6721C>T (p.Arg2241X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00016 in 251116 control chromosomes (gnomAD). c.6721C>T has been reported in the literature in multiple compound heterozygous individuals affected with RYR-1 related myopathies (e.g. Zhou_2010, Klein_2012, Garibaldi_2019), in addition, the variant was also reported in homozygous state in 6 fetuses presenting as lethal fetal akinesia in one family (McKie_2014). These data indicate that the variant is very likely to be associated with disease. Publications also reported absent allele specific mRNA, and very low levels of RYR1 protein expression in muscle biopsy samples from compound heterozygous patients, providing evidence for nonsense mediated mRNA decay (e.g. Zhou_2010, Garibaldi_2019). Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and all of them classified the variant as pathogenic (n=9) / likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Malignant hyperthermia, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002761441.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
Comment:
PVS1, PM2, PS4 - supporting
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Pathogenic
(Sep 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Central core myopathy
Malignant hyperthermia, susceptibility to, 1 Congenital myopathy 4A, autosomal dominant Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002807636.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Apr 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000329505.9
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
Observed in homozygous state or with a pathogenic variant on the opposite allele (in trans) in patients in published literature with an RYR1-related myopathy and … (more)
Observed in homozygous state or with a pathogenic variant on the opposite allele (in trans) in patients in published literature with an RYR1-related myopathy and not observed in homozygous state in controls (McKie et al., 2014; Todd et al., 2015); Identified in a patient in published literature with a second RYR1 variant and history of congenital myopathy with episodes of generalized atypical normokalemic paralysis as a teen (Zhou et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33333461, 27447704, 25637381, 24951453, 24195946, 22473935, 23553787, 25525159, 26332594, 25127990, 27854218, 26633545, 29298851, 30155738, 26578207, 30609409, 30611313, 31680349, 34426522, 34539730, 25476234, 20080402) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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RYR1-Related Disorders
Affected status: yes
Allele origin:
germline
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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046178.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This nonsense variant found in exon 41 of 106 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated … (more)
This nonsense variant found in exon 41 of 106 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a compound heterozygous and homozygous change in patients with multi-minicore disease and fetal akinesia deformation sequence syndrome (PMID: 20080402, 34539730, 24951453, 25476234). The c.6721C>T (p.Arg2241Ter) variant is present in the heterozygous state in the gnomAD population database at a frequency of 0.015% (43/282472) and is absent in the homozygous state, thus it is presumed to be rare. Based on the available evidence, the c.6721C>T (p.Arg2241Ter) variant is classified as Pathogenic. (less)
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Pathogenic
(Apr 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002019953.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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RYR1-Related Disorders
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000660005.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg2241*) in the RYR1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg2241*) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 23919265, 25960145, 28818389, 30611313). This variant is present in population databases (rs200563280, gnomAD 0.2%). This premature translational stop signal has been observed in individuals with autosomal recessive congenital myopathy (PMID: 20080402, 22473935, 23553787, 24195946, 24951453). ClinVar contains an entry for this variant (Variation ID: 159856). For these reasons, this variant has been classified as Pathogenic. (less)
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Uncertain Significance
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Malignant hyperthermia, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004820892.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This variant changes 1 nucleotide in exon 41 of the RYR1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 41 of the RYR1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been reported in individuals affected with autosomal dominant malignant hyperthermia in the literature, although it is associated with other phenotype(s) (ClinVar variation ID: 159856). This variant has been identified in 43/282472 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of RYR1 function due to truncation variants is not an established disease mechanism for autosomal dominant malignant hyperthermia, although it is associated with other phenotype(s) (clinicalgenome.org). Due to insufficient evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant malignant hyperthermia. (less)
Number of individuals with the variant: 65
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Pathogenic
(Oct 16, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hydrops fetalis
Affected status: yes
Allele origin:
germline
|
Center for Reproductive Medicine, Peking University Third Hospital
Accession: SCV001433926.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
|
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Likely pathogenic
(Feb 28, 2020)
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criteria provided, single submitter
Method: clinical testing
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Central core myopathy
Affected status: yes
Allele origin:
germline
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Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
Accession: SCV001739483.1
First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021 |
Number of individuals with the variant: 1
Age: 0-9 years
Sex: male
Ethnicity/Population group: East asia
Geographic origin: China
Testing laboratory: Liwei's Lab
|
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Pathogenic
(May 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002501108.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
|
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Likely benign
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Multi-minicore disease & atypical periodic paralysis
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190525.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808716.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957654.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(Dec 05, 2014)
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no assertion criteria provided
Method: literature only
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MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000223695.4
First in ClinVar: May 24, 2015 Last updated: Oct 16, 2021 |
Comment on evidence:
In 6 fetuses, conceived by consanguineous Dutch parents, with minicore myopathy with external ophthalmoplegia (255320) presenting as lethal fetal akinesia, McKie et al. (2014) identified … (more)
In 6 fetuses, conceived by consanguineous Dutch parents, with minicore myopathy with external ophthalmoplegia (255320) presenting as lethal fetal akinesia, McKie et al. (2014) identified a homozygous c.6721C-T transition (c.6721C-T, NM_000540.2) in the RYR1 gene, resulting in an arg2241-to-ter (R2241X) substitution. The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. A heterozygous c.6721C-T transition (rs200563280) had been found in 1 of 6,503 genotypes in the Exome Variant Server database. (less)
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Likely pathogenic
(Jul 21, 2023)
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no assertion criteria provided
Method: research
|
Malignant hyperthermia, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
deCODE genetics, Amgen
Accession: SCV004022261.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Comment:
The variant NM_000540.3:c.6721C>T (chr19:38496466) in RYR1 was detected in 2 heterozygotes out of 58K WGS Icelanders (MAF= 0,002%). This variant has been reported in ClinVar … (more)
The variant NM_000540.3:c.6721C>T (chr19:38496466) in RYR1 was detected in 2 heterozygotes out of 58K WGS Icelanders (MAF= 0,002%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. (less)
Number of individuals with the variant: 2
Ethnicity/Population group: Icelandic
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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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The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort. | Natera-de Benito D | Pediatric neurology | 2021 | PMID: 33333461 |
Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations. | Guo W | Human mutation | 2020 | PMID: 31680349 |
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. | Garibaldi M | Acta neuropathologica communications | 2019 | PMID: 30611313 |
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. | Ceyhan-Birsoy O | American journal of human genetics | 2019 | PMID: 30609409 |
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. | Abath Neto O | Neuromuscular disorders : NMD | 2017 | PMID: 28818389 |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. | Punetha J | Journal of neuromuscular diseases | 2016 | PMID: 27854218 |
Molecular diagnostic experience of whole-exome sequencing in adult patients. | Posey JE | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26633545 |
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. | Olfson E | PloS one | 2015 | PMID: 26332594 |
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. | Snoeck M | European journal of neurology | 2015 | PMID: 25960145 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. | McKie AB | Acta neuropathologica communications | 2014 | PMID: 25476234 |
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. | Illingworth MA | Neuromuscular disorders : NMD | 2014 | PMID: 24951453 |
Using exome data to identify malignant hyperthermia susceptibility mutations. | Gonsalves SG | Anesthesiology | 2013 | PMID: 24195946 |
Genotype-phenotype correlations in recessive RYR1-related myopathies. | Amburgey K | Orphanet journal of rare diseases | 2013 | PMID: 23919265 |
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. | Zhou H | Human mutation | 2013 | PMID: 23553787 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. | Klein A | Human mutation | 2012 | PMID: 22473935 |
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. | Klein A | Archives of neurology | 2011 | PMID: 21911697 |
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. | Zhou H | Neuromuscular disorders : NMD | 2010 | PMID: 20080402 |
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. | Zhou H | American journal of human genetics | 2006 | PMID: 17033962 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 | - | - | - | - |
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Text-mined citations for rs200563280 ...
HelpRecord last updated Apr 20, 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.