NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND Congenital long QT syndrome

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000058429.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)]

NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)

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.1567C>T (p.Arg523Cys)
HGVS:
  • NC_000003.12:g.38604035G>A
  • NG_008934.1:g.50638C>T
  • NM_000335.5:c.1567C>TMANE SELECT
  • NM_001099404.2:c.1567C>T
  • NM_001099405.2:c.1567C>T
  • NM_001160160.2:c.1567C>T
  • NM_001160161.2:c.1567C>T
  • NM_001354701.2:c.1567C>T
  • NM_198056.3:c.1567C>T
  • NP_000326.2:p.Arg523Cys
  • NP_001092874.1:p.Arg523Cys
  • NP_001092875.1:p.Arg523Cys
  • NP_001092875.1:p.Arg523Cys
  • NP_001153632.1:p.Arg523Cys
  • NP_001153633.1:p.Arg523Cys
  • NP_001341630.1:p.Arg523Cys
  • NP_932173.1:p.Arg523Cys
  • NP_932173.1:p.Arg523Cys
  • LRG_289t1:c.1567C>T
  • LRG_289:g.50638C>T
  • LRG_289p1:p.Arg523Cys
  • NC_000003.11:g.38645526G>A
  • NM_001099405.1:c.1567C>T
  • NM_198056.2:c.1567C>T
Protein change:
R523C
Links:
dbSNP: rs199473119
NCBI 1000 Genomes Browser:
rs199473119
Molecular consequence:
  • NM_000335.5:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089949Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP.

Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.

PubMed [citation]
PMID:
18752142

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy.

Aurlien D, Leren TP, Taubøll E, Gjerstad L.

Seizure. 2009 Mar;18(2):158-60. doi: 10.1016/j.seizure.2008.07.008. Epub 2008 Aug 27.

PubMed [citation]
PMID:
18752973
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089949.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:18752142;PMID:18752973). 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: Dec 4, 2021

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