NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) AND enflurane response - Toxicity - ClinVar

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) AND enflurane 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:: RCV001787720.11

Allele description [Variation Report for NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)]

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)

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.7300G>A (p.Gly2434Arg)

Other names:

NM_000540.3(RYR1):c.7300G>A

HGVS:

NC_000019.10:g.38499993G>A
NG_008866.1:g.71294G>A
NM_000540.3:c.7300G>AMANE SELECT
NM_001042723.2:c.7300G>A
NP_000531.2:p.Gly2434Arg
NP_000531.2:p.Gly2434Arg
NP_001036188.1:p.Gly2434Arg
LRG_766t1:c.7300G>A
LRG_766:g.71294G>A
LRG_766p1:p.Gly2434Arg
NC_000019.9:g.38990633G>A
NM_000540.2:c.7300G>A
P21817:p.Gly2434Arg
p.(Gly2434Arg)

Protein change:

G2434R; GLY2434ARG

Links:

PharmGKB: 1183705812PA164749136; PharmGKB: 1183705812PA449461; PharmGKB: 1183705812PA449845; PharmGKB: 1183705812PA450106; PharmGKB: 1183705812PA450434; PharmGKB: 1183705812PA451341; PharmGKB: 1183705812PA451522; UniProtKB: P21817#VAR_005605; OMIM: 180901.0007; dbSNP: rs121918593

NCBI 1000 Genomes Browser:

rs121918593

Molecular consequence:

NM_000540.3:c.7300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7300G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: enflurane response - Toxicity
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000925396	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: enflurane response - Toxicity Drug reported used for: Malignant Hyperthermia	germline	curation	PubMed (36) [See all records that cite these PMIDs] 10484775, 10700782, 10793526, 11575529, 11668625, 12059893, 12124989, 12151923, 12208234, 12411786, 15448513, 15731587, 16163667, 16732128, 16835904, 16917943, 17081152, 18502356, 18564801, 18945287, 19648156, 20681998, 21455645, 21965348, 23558838, 23628358, 24433488, 25268394, 25735680, 25960145, 26994242, 27382027, 27646467, 28063098, 28326467, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000925396

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: enflurane response - Toxicity
Drug reported used for: Malignant Hyperthermia

germline

curation

PubMed (36)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.

Hum Mol Genet. 1999 Oct;8(11):2055-62.

PubMed [citation]

PMID:: 10484775

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

Brinkmeier H, Krämer J, Krämer R, Iaizzo PA, Baur C, Lehmann-Horn F, Rüdel R.

Br J Anaesth. 1999 Dec;83(6):855-61.

PubMed [citation]

PMID:: 10700782

See all PubMed Citations (36)

Details of each submission

From PharmGKB, SCV000925396.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (36)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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