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NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) AND succinylcholine 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:
RCV001787739.10

Allele description [Variation Report for NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)]

NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)

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.7373G>A (p.Arg2458His)
HGVS:
  • NC_000019.10:g.38500655G>A
  • NG_008866.1:g.71956G>A
  • NM_000540.3:c.7373G>AMANE SELECT
  • NM_001042723.2:c.7373G>A
  • NP_000531.2:p.Arg2458His
  • NP_000531.2:p.Arg2458His
  • NP_001036188.1:p.Arg2458His
  • LRG_766t1:c.7373G>A
  • LRG_766:g.71956G>A
  • LRG_766p1:p.Arg2458His
  • NC_000019.9:g.38991295G>A
  • NM_000540.2:c.7373G>A
  • P21817:p.Arg2458His
  • p.(Arg2458His)
Protein change:
R2458H; ARG2458HIS
Links:
PharmGKB: 1183705827PA164749136; PharmGKB: 1183705827PA449461; PharmGKB: 1183705827PA449845; PharmGKB: 1183705827PA450106; PharmGKB: 1183705827PA450434; PharmGKB: 1183705827PA451341; PharmGKB: 1183705827PA451522; UniProtKB: P21817#VAR_008978; OMIM: 180901.0009; dbSNP: rs121918594
NCBI 1000 Genomes Browser:
rs121918594
Molecular consequence:
  • NM_000540.3:c.7373G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7373G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
succinylcholine response - Toxicity
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925472PharmGKB
reviewed by expert panel

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

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

Shepherd S, Ellis F, Halsall J, Hopkins P, Robinson R.

J Med Genet. 2004 Mar;41(3):e33. No abstract available.

PubMed [citation]
PMID:
14985404
PMCID:
PMC1735714

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.

Anesthesiology. 2006 Jun;104(6):1146-54.

PubMed [citation]
PMID:
16732084
See all PubMed Citations (8)

Details of each submission

From PharmGKB, SCV000925472.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)

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: Jul 15, 2024