NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) AND sevoflurane response - Toxicity

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001787949.11

Allele description [Variation Report for NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)]

NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
Other names:
NM_000540.3(RYR1):c.130C>T
HGVS:
  • NC_000019.10:g.38440829C>T
  • NG_008866.1:g.12130C>T
  • NM_000540.3:c.130C>TMANE SELECT
  • NM_001042723.2:c.130C>T
  • NP_000531.2:p.Arg44Cys
  • NP_000531.2:p.Arg44Cys
  • NP_001036188.1:p.Arg44Cys
  • LRG_766t1:c.130C>T
  • LRG_766:g.12130C>T
  • LRG_766p1:p.Arg44Cys
  • NC_000019.9:g.38931469C>T
  • NM_000540.2:c.130C>T
  • P21817:p.Arg44Cys
  • p.(Arg44Cys)
Protein change:
R44C
Links:
PharmGKB: 1449747643PA164749136; PharmGKB: 1449747643PA449461; PharmGKB: 1449747643PA449845; PharmGKB: 1449747643PA450106; PharmGKB: 1449747643PA450434; PharmGKB: 1449747643PA451341; PharmGKB: 1449747643PA451522; UniProtKB: P21817#VAR_045695; dbSNP: rs193922748
NCBI 1000 Genomes Browser:
rs193922748
Molecular consequence:
  • NM_000540.3:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
sevoflurane response - Toxicity
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925563PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Mar 24, 2021)
Condition: sevoflurane response - Toxicity
Drug reported used for: Malignant Hyperthermia		germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

Tammaro A, Bracco A, Cozzolino S, Esposito M, Di Martino A, Savoia G, Zeuli L, Piluso G, Aurino S, Nigro V.

Clin Chem. 2003 May;49(5):761-8.

PubMed [citation]
PMID:
12709367

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Klingler W, Heiderich S, Girard T, Gravino E, Heffron JJ, Johannsen S, Jurkat-Rott K, Rüffert H, Schuster F, Snoeck M, Sorrentino V, Tegazzin V, Lehmann-Horn F.

Orphanet J Rare Dis. 2014 Jan 16;9:8. doi: 10.1186/1750-1172-9-8.

PubMed [citation]
PMID:
24433488
PMCID:
PMC3896768
See all PubMed Citations (3)

Details of each submission

From PharmGKB, SCV000925563.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024