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NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Ventricular fibrillation, paroxysmal familial, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 11, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000009981.12

Allele description [Variation Report for NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)]

NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)

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.5126C>T (p.Ser1709Leu)
Other names:
p.S1710L:TCG>TTG; p.Ser1710Leu
HGVS:
  • NC_000003.12:g.38551243G>A
  • NG_008934.1:g.103430C>T
  • NM_000335.5:c.5126C>TMANE SELECT
  • NM_001099404.2:c.5129C>T
  • NM_001099405.2:c.5075C>T
  • NM_001160160.2:c.5030C>T
  • NM_001160161.2:c.4967C>T
  • NM_001354701.2:c.5072C>T
  • NM_198056.3:c.5129C>T
  • NP_000326.2:p.Ser1709Leu
  • NP_001092874.1:p.Ser1710Leu
  • NP_001092874.1:p.Ser1710Leu
  • NP_001092875.1:p.Ser1692Leu
  • NP_001153632.1:p.Ser1677Leu
  • NP_001153633.1:p.Ser1656Leu
  • NP_001341630.1:p.Ser1691Leu
  • NP_932173.1:p.Ser1710Leu
  • NP_932173.1:p.Ser1710Leu
  • LRG_289t1:c.5129C>T
  • LRG_289t3:c.5129C>T
  • LRG_289:g.103430C>T
  • LRG_289p1:p.Ser1710Leu
  • LRG_289p3:p.Ser1710Leu
  • NC_000003.11:g.38592734G>A
  • NM_001099404.1:c.5129C>T
  • NM_198056.2:c.5129C>T
Protein change:
S1656L; SER1710LEU
Links:
OMIM: 600163.0014; dbSNP: rs137854604
NCBI 1000 Genomes Browser:
rs137854604
Molecular consequence:
  • NM_000335.5:c.5126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.5129C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.5075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.5030C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4967C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.5072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.5129C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular fibrillation, paroxysmal familial, type 1
Identifiers:
MONDO: MONDO:0011376; MedGen: C2751898; Orphanet: 228140; OMIM: 603829

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030202OMIM
no assertion criteria provided
Pathogenic
(Aug 11, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M.

FEBS Lett. 2000 Aug 11;479(1-2):29-34.

PubMed [citation]
PMID:
10940383

Details of each submission

From OMIM, SCV000030202.3

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

Description

Akai et al. (2000) screened 25 Japanese patients with idiopathic ventricular fibrillation (VF1; 603829). The diagnosis was based on the occurrence of at least one episode of syncope and/or cardiac arrest and documentation of ventricular fibrillation. Structural heart disorders were excluded. Eighteen patients were diagnosed as Brugada syndrome. The authors identified a heterozygous ser1710-to-leu missense mutation of the SCN5A gene in a 39-year-old man who was admitted to the hospital for recurrent syncope and suffered an episode of spontaneous ventricular fibrillation while hospitalized. An implanted cardiac defibrillator was successful in preventing further attacks of palpitation or syncope. Brugada syndrome was not present. The paternal grandfather and a paternal uncle had died suddenly in their sixth decade of unknown cause; the parents and sibs were asymptomatic.

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

Last Updated: Sep 1, 2024