ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
Variation ID: 133075 Accession: VCV000133075.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.2 19: 38580382 (GRCh38) [ NCBI UCSC ] 19: 39071022 (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 Jun 9, 2014 Aug 11, 2024 Apr 6, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000540.3:c.14524G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000531.2:p.Val4842Met missense NM_001042723.2:c.14509G>A NP_001036188.1:p.Val4837Met missense NC_000019.10:g.38580382G>A NC_000019.9:g.39071022G>A NG_008866.1:g.151683G>A LRG_766:g.151683G>A LRG_766t1:c.14524G>A LRG_766p1:p.Val4842Met P21817:p.Val4842Met - Protein change
- V4842M, V4837M
- Other names
- NM_000540.2(RYR1):c.14524G>A
- Canonical SPDI
- NC_000019.10:38580381:G:A
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00012
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
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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 |
8892 | 9206 |
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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Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Feb 21, 2023 | RCV000119524.40 | |
Uncertain significance (1) |
no assertion criteria provided
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Jun 1, 2014 | RCV000148830.10 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Feb 2, 2024 | RCV000546614.17 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 3, 2022 | RCV000616859.12 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Dec 13, 2023 | RCV001132276.14 | |
Uncertain significance (1) |
reviewed by expert panel
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Apr 6, 2023 | RCV001588937.9 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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May 21, 2024 | RCV002247501.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Sep 27, 2021 | RCV002498549.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 1, 2024 | RCV004586558.1 |
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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Uncertain significance
(Apr 06, 2023)
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reviewed by expert panel
Method: curation
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Malignant hyperthermia of anesthesia
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV001815852.2 First in ClinVar: Sep 08, 2021 Last updated: Apr 23, 2023 |
Comment:
This pathogenicity assessment is relevant only for malignant hyperthermia susceptibility (MHS) inherited in an autosomal dominant pattern. Variants in RYR1 can also cause other myopathies … (more)
This pathogenicity assessment is relevant only for malignant hyperthermia susceptibility (MHS) inherited in an autosomal dominant pattern. Variants in RYR1 can also cause other myopathies inherited in an autosomal dominant pattern or in an autosomal recessive pattern. Some of these disorders may predispose individuals to malignant hyperthermia. RYR1 variants may also contribute to a malignant hyperthermia reaction in combination with other genetic and non-genetic factors and the clinician needs to consider such factors in making management decisions. This sequence variant predicts a substitution of valine with methionine at codon 4842 of the RYR1 protein, p.(Val4842Met). The maximum allele frequency for this variant among the six major gnomAD populations is AFR: 0.0002, a frequency consistent with pathogenicity for MHS. This variant has been reported in an individual with a personal or family history of an MH episode and a positive in vitro contracture test (IVCT) or caffeine halothane contracture test (CHCT) result (if the proband was unavailable for testing, a positive diagnostic test result in a mutation-positive relative was counted) (PMID:21455645). However, the high MAF in the AFR population in gnomAD precludes the use of PS4. No functional studies were identified for this variant. This variant resides in a region of RYR1 considered to be a hotspot for pathogenic variants that contribute to MHS, PM1_Supporting (PMID: 21118704). A REVEL score >0.85 (0.933) supports a pathogenic status for this variant, PP3_Moderate. This variant has been classified as a Variant of Unknown Significance. Criteria implemented: PM1_Supporting, PP3_Moderate. (less)
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Uncertain significance
(Aug 15, 2017)
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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: SCV000701731.2
First in ClinVar: Apr 02, 2018 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 2
Sex: mixed
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Uncertain significance
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Malignant hyperthermia, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001291931.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Uncertain significance
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002519298.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Uncertain significance
(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: SCV002812834.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Uncertain significance
(Jul 01, 2023)
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criteria provided, single submitter
Method: research
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RYR1-Related Disorders
Affected status: unknown
Allele origin:
unknown
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Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
Accession: SCV004123104.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
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Uncertain significance
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV004229924.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is … (more)
Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging. (less)
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Uncertain significance
(Mar 15, 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: SCV003813159.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(May 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Malignant hyperthermia, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004358228.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces valine with methionine at codon 4842 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces valine with methionine at codon 4842 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with autosomal dominant malignant hyperthermia (PMID: 21455645). This variant has been associated with other phenotype(s) (ClinVar Variation ID: 133075). This variant has been identified in 21/282634 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Due to insufficient evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant malignant hyperthermia. (less)
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Uncertain significance
(Feb 02, 2024)
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criteria provided, single submitter
Method: clinical testing
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RYR1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000852424.2
First in ClinVar: Mar 08, 2017 Last updated: Mar 16, 2024 |
Comment:
The RYR1 c.14524G>A variant is predicted to result in the amino acid substitution p.Val4842Met. This variant, along with the c.10348-6C>G variant on the same allele, … (more)
The RYR1 c.14524G>A variant is predicted to result in the amino acid substitution p.Val4842Met. This variant, along with the c.10348-6C>G variant on the same allele, has been documented in at least three unrelated families with autosomal recessive RYR1-related congenital myopathy (Monnier et al. 2008. PubMed ID: 18253926; Wilmshurst et al. 2010. PubMed ID: 20839240; Bevilacqua et al. 2011. PubMed ID: 21062345). The c.10348-6C>G variant is predicted to weaken the canonical acceptor splice site at the junction of intron 68 and exon 69 based on available splicing prediction programs (Alamut Visual v2.11). The c.14524G>A (p.Val4842Met) has been classified as a variant of uncertain clinical significance by the ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/133075/). This variant is reported in 0.077% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. While the clinical significance of the c.14524G>A variant by itself is uncertain, we classify this combined haplotype (c.10348-6G>C and c.14524G>A (p.Val4842Met)) as pathogenic. (less)
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Uncertain Significance
(Dec 13, 2023)
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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: SCV004816269.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces valine with methionine at codon 4842 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces valine with methionine at codon 4842 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with autosomal dominant malignant hyperthermia (PMID: 21455645). This variant has been associated with other phenotype(s) (ClinVar Variation ID: 133075). This variant has been identified in 21/282634 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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: 29
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Likely Pathogenic
(Nov 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Neuromuscular disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000711661.3
First in ClinVar: Apr 09, 2018 Last updated: Apr 20, 2024 |
Comment:
The p.Val4842Met variant in RYR1 has been reported in compound heterozygosity in 13 individuals with centronuclear myopathy (Monneri 2008 PMID: 18253926, Wilmshurst 2010 PMID: 20839240, … (more)
The p.Val4842Met variant in RYR1 has been reported in compound heterozygosity in 13 individuals with centronuclear myopathy (Monneri 2008 PMID: 18253926, Wilmshurst 2010 PMID: 20839240, Bevilacqua 2011 PMID: 21062345). This variant segregated with disease in 3 affected relatives with centronuclear myopathy in 2 families. In the 13 individuals with centronuclear myopathy, the p.Val4842Met variant always occurred in conjunction with the c.10348-6C>G variant on the same copy of the gene (in cis). The p.Val4842Met variant has also been identified in 2/10334 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs193922879). Computational prediction tools and conservation analysis suggest that the p.Val4842Met variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, the p.Val4842Met variant is likely pathogenic for centronuclear myopathy in an autosomal recessive manner. ACMG/AMP criteria applied: PM3_Strong, PP1, PP3. (less)
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Likely pathogenic
(Mar 01, 2024)
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criteria provided, single submitter
Method: research
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Congenital multicore myopathy with external ophthalmoplegia
Affected status: yes
Allele origin:
paternal
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Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire
Accession: SCV005038500.1
First in ClinVar: Jul 15, 2024 Last updated: Jul 15, 2024 |
Comment:
PM1+PM2+PP2+PP3
Number of individuals with the variant: 1
Sex: male
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Likely pathogenic
(Jul 01, 2019)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246312.24
First in ClinVar: May 12, 2020 Last updated: Aug 04, 2024 |
Number of individuals with the variant: 2
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Uncertain significance
(May 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005185142.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
Variant summary: RYR1 c.14524G>A (p.Val4842Met) results in a conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Four … (more)
Variant summary: RYR1 c.14524G>A (p.Val4842Met) results in a conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.6e-05 in 251266 control chromosomes (gnomAD). c.14524G>A has been reported in the literature in individuals affected with Myopathy, RYR1-Associated (e.g. Monnier_2008, Wilmshurst_2010, Bevilacqua_2011, Zhou_2013, Punetha_2016, Abath Neto_2017, Gonzalez-Quereda_2020), and in many cases it was found in cis with the pathogenic variant c.10348-6C>G. It was also found in an individual with malignant hypothermia susceptibility who had another variant of uncertain significance (Kraeva_2011). These reports do not provide unequivocal conclusions about association of the variant with Myopathy, RYR1-Associated. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 18253926, 21062345, 23553787, 27854218, 21455645, 32403337, 20839240). ClinVar contains an entry for this variant (Variation ID: 133075). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Uncertain significance
(Oct 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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RYR1-related disorder
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000659852.7
First in ClinVar: Dec 26, 2017 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4842 of the RYR1 protein (p.Val4842Met). … (more)
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4842 of the RYR1 protein (p.Val4842Met). This variant is present in population databases (rs193922879, gnomAD 0.07%). This missense change has been observed in individual(s) with with autosomal recessive congenital myopathy and an individual affected with malignant hyperthermia susceptibility. In some cases, this variant occurred on the same chromosome as the c.10348–6C>G variant (PMID: 18253926, 20839240, 21062345, 21455645, 23394784, 23553484, 23553787, 26019235, 27854218, 28818389). ClinVar contains an entry for this variant (Variation ID: 133075). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RYR1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Myopathy, congenital with cores
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190570.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
unknown
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Leiden Muscular Dystrophy (RYR1)
Accession: SCV000154431.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014 |
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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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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. | de Feraudy Y | Genome medicine | 2024 | DOI: 10.1186/s13073-024-01353-0 |
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. | Cotta A | Genes | 2022 | PMID: 35627144 |
Actionable genomic variants in 6045 participants from the Qatar Genome Program. | Elfatih A | Human mutation | 2021 | PMID: 34428338 |
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. | Gonzalez-Quereda L | Genes | 2020 | PMID: 32403337 |
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. | Schoonen M | The Journal of molecular diagnostics : JMD | 2019 | PMID: 30872186 |
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. | Garibaldi M | Acta neuropathologica communications | 2019 | PMID: 30611313 |
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 |
Malignant hyperthermia testing in probands without adverse anesthetic reaction. | Timmins MA | Anesthesiology | 2015 | PMID: 26068069 |
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. | Rokach O | Human molecular genetics | 2015 | PMID: 26019235 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. | Schabhüttl M | Journal of neurology | 2014 | PMID: 24627108 |
Using exome data to identify malignant hyperthermia susceptibility mutations. | Gonsalves SG | Anesthesiology | 2013 | PMID: 24195946 |
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. | Zhou H | Human mutation | 2013 | PMID: 23553787 |
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. | Bharucha-Goebel DX | Neurology | 2013 | PMID: 23553484 |
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 |
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. | Kraeva N | Canadian journal of anaesthesia = Journal canadien d'anesthesie | 2011 | PMID: 21455645 |
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. | Bevilacqua JA | Neuropathology and applied neurobiology | 2011 | PMID: 21062345 |
RYR1 mutations are a common cause of congenital myopathies with central nuclei. | Wilmshurst JM | Annals of neurology | 2010 | PMID: 20839240 |
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. | Monnier N | Human mutation | 2008 | PMID: 18253926 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/129980ab-9ba5-4b7a-b85c-c56cb23869ee | - | - | - | - |
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Text-mined citations for rs193922879 ...
HelpRecord last updated Sep 17, 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.