NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) AND Malignant hyperthermia of anesthesia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2023
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:: RCV004017719.1

Allele description [Variation Report for NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)]

NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)

Gene:

CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)

HGVS:

NC_000001.11:g.201091993G>A
NG_009816.2:g.25574C>T
NM_000069.3:c.520C>TMANE SELECT
NP_000060.2:p.Arg174Trp
NC_000001.10:g.201061121G>A
NG_009816.1:g.25574C>T
NM_000069.2:c.520C>T

Protein change:

R174W

Links:

PharmGKB: 1449563861PA164749136; PharmGKB: 1449563861PA449461; PharmGKB: 1449563861PA449845; PharmGKB: 1449563861PA450106; PharmGKB: 1449563861PA450434; PharmGKB: 1449563861PA451341; PharmGKB: 1449563861PA451522; dbSNP: rs772226819

NCBI 1000 Genomes Browser:

rs772226819

Molecular consequence:

NM_000069.3:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant hyperthermia of anesthesia
Synonyms:: Hyperthermia of anesthesia
Identifiers:: MONDO: MONDO:0018493; MedGen: C0024591

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004848031	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Pathogenic (Jun 1, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23663834, 19825159, 22547813, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004848031

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Pathogenic
(Jun 1, 2023)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Impaired gating of an L-Type Ca(2+) channel carrying a mutation linked to malignant hyperthermia.

Bannister RA, Beam KG.

Biophys J. 2013 May 7;104(9):1917-22. doi: 10.1016/j.bpj.2013.03.035. Erratum in: Biophys J. 2015 May 5;108(9):2420.

PubMed [citation]

PMID:: 23663834
PMCID:: PMC3647151

The role of CACNA1S in predisposition to malignant hyperthermia.

Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA.

BMC Med Genet. 2009 Oct 13;10:104. doi: 10.1186/1471-2350-10-104.

PubMed [citation]

PMID:: 19825159
PMCID:: PMC2770053

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848031.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

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

Last Updated: May 19, 2024

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