NM_000540.3(RYR1):c.1598G>A (p.Arg533His) AND Central core myopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 12, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000853506.9

Allele description [Variation Report for NM_000540.3(RYR1):c.1598G>A (p.Arg533His)]

NM_000540.3(RYR1):c.1598G>A (p.Arg533His)

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.1598G>A (p.Arg533His)

Other names:

NM_000540.3(RYR1):c.1598G>A

HGVS:

NC_000019.10:g.38455472G>A
NG_008866.1:g.26773G>A
NM_000540.3:c.1598G>AMANE SELECT
NM_001042723.2:c.1598G>A
NP_000531.2:p.Arg533His
NP_000531.2:p.Arg533His
NP_001036188.1:p.Arg533His
LRG_766t1:c.1598G>A
LRG_766:g.26773G>A
LRG_766p1:p.Arg533His
NC_000019.9:g.38946112G>A
NM_000540.2:c.1598G>A
NM_000540.3:c.1598G>A
P21817:p.Arg533His
p.(Arg533His)

Protein change:

R533H

Links:

UniProtKB: P21817#VAR_008971; dbSNP: rs144336148

NCBI 1000 Genomes Browser:

rs144336148

Molecular consequence:

NM_000540.3:c.1598G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.1598G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Central core myopathy (CMYP1A)
Synonyms:: Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000996439	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 12, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30499100, 23459219, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000996439

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 12, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG.

Clin Pharmacol Ther. 2019 Jun;105(6):1338-1344. doi: 10.1002/cpt.1319. Epub 2019 Jan 24. Review. Erratum in: Clin Pharmacol Ther. 2019 Dec;106(6):1408. doi: 10.1002/cpt.1670.

PubMed [citation]

PMID:: 30499100
PMCID:: PMC6513720

Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.

Sato K, Roesl C, Pollock N, Stowell KM.

Anesthesiology. 2013 Jul;119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe.

PubMed [citation]

PMID:: 23459219

See all PubMed Citations (3)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000996439.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Jul 7, 2024

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