U.S. flag

An official website of the United States government

NM_000335.5(SCN5A):c.667G>C (p.Val223Leu) AND Brugada syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000058834.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.667G>C (p.Val223Leu)]

NM_000335.5(SCN5A):c.667G>C (p.Val223Leu)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.667G>C (p.Val223Leu)
HGVS:
  • NC_000003.12:g.38613779C>G
  • NG_008934.1:g.40894G>C
  • NM_000335.5:c.667G>CMANE SELECT
  • NM_001099404.2:c.703+196G>C
  • NM_001099405.2:c.703+196G>C
  • NM_001160160.2:c.703+196G>C
  • NM_001160161.2:c.703+196G>C
  • NM_001354701.2:c.703+196G>C
  • NM_198056.3:c.667G>C
  • NP_000326.2:p.Val223Leu
  • NP_932173.1:p.Val223Leu
  • NP_932173.1:p.Val223Leu
  • LRG_289t1:c.667G>C
  • LRG_289:g.40894G>C
  • LRG_289p1:p.Val223Leu
  • NC_000003.11:g.38655270C>G
  • NM_198056.2:c.667G>C
  • Q14524:p.Val223Leu
Protein change:
V223L
Links:
UniProtKB: Q14524#VAR_074333; dbSNP: rs199473560
NCBI 1000 Genomes Browser:
rs199473560
Molecular consequence:
  • NM_001099404.2:c.703+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099405.2:c.703+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001160160.2:c.703+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001160161.2:c.703+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354701.2:c.703+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.5:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090354Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, et al.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

PubMed [citation]
PMID:
20129283
PMCID:
PMC2822446

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000090354.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Nov 5, 2022