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NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) AND Long QT syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 2001
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:
RCV000009969.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)]

NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)

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.5381A>G (p.Tyr1794Cys)
HGVS:
  • NC_000003.12:g.38550988T>C
  • NG_008934.1:g.103685A>G
  • NM_000335.5:c.5381A>GMANE SELECT
  • NM_001099404.2:c.5384A>G
  • NM_001099405.2:c.5330A>G
  • NM_001160160.2:c.5285A>G
  • NM_001160161.2:c.5222A>G
  • NM_001354701.2:c.5327A>G
  • NM_198056.3:c.5384A>G
  • NP_000326.2:p.Tyr1794Cys
  • NP_001092874.1:p.Tyr1795Cys
  • NP_001092875.1:p.Tyr1777Cys
  • NP_001153632.1:p.Tyr1762Cys
  • NP_001153633.1:p.Tyr1741Cys
  • NP_001341630.1:p.Tyr1776Cys
  • NP_932173.1:p.Tyr1795Cys
  • NP_932173.1:p.Tyr1795Cys
  • LRG_289t1:c.5384A>G
  • LRG_289:g.103685A>G
  • LRG_289p1:p.Tyr1795Cys
  • NC_000003.11:g.38592479T>C
  • NM_198056.2:c.5384A>G
Protein change:
Y1741C; TYR1795CYS
Links:
OMIM: 600163.0029; dbSNP: rs137854614
NCBI 1000 Genomes Browser:
rs137854614
Molecular consequence:
  • NM_000335.5:c.5381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.5384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.5330A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.5285A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.5222A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.5327A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.5384A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030190OMIM
no assertion criteria provided
Pathogenic
(Aug 17, 2001) 		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

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS.

J Biol Chem. 2001 Aug 17;276(33):30623-30. Epub 2001 Jun 15.

PubMed [citation]
PMID:
11410597

Details of each submission

From OMIM, SCV000030190.2

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

Description

In a patient with long QT syndrome-3 (LQT3; 603830), Rivolta et al. (2001) identified a tyr1795-to-cys (Y1795C) mutation in the SCN5A gene. The mutation slowed the onset of activation, but did not cause a marked negative shift in the voltage dependence of inactivation or affect the kinetics of the recovery from inactivation. The mutation increased the expression of sustained Na(+) channel activity compared with wildtype channels and promoted entrance into an intermediate or slowly developing inactivated state.

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

Last Updated: Apr 20, 2024