NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) 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:
RCV000058782.3

Allele description [Variation Report for NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn)]

NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn)

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_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn)
Other names:
p.D1819N:GAT>AAT
HGVS:
  • NC_000003.12:g.38550917C>T
  • NG_008934.1:g.103756G>A
  • NM_000335.4:c.5452G>A
  • NM_001099404.1:c.5455G>A
  • NM_198056.2:c.5455G>A
  • NP_000326.2:p.Asp1818Asn
  • NP_001092874.1:p.Asp1819Asn
  • NP_932173.1:p.Asp1819Asn
  • LRG_289t1:c.5455G>A
  • LRG_289t2:c.5452G>A
  • LRG_289t3:c.5455G>A
  • LRG_289:g.103756G>A
  • LRG_289p1:p.Asp1819Asn
  • LRG_289p2:p.Asp1818Asn
  • LRG_289p3:p.Asp1819Asn
  • NC_000003.11:g.38592408C>T
  • Q14524:p.Asp1819Asn
Protein change:
D1818N; ASP1819ASN
Links:
UniProtKB: Q14524#VAR_036668; OMIM: 600163.0035; dbSNP: rs137854619
NCBI 1000 Genomes Browser:
rs137854619
Molecular consequence:
  • NM_000335.4:c.5452G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome
Synonyms:
Familial long QT syndrome
Identifiers:
MedGen: C1141890; Orphanet: 768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090302Cardiovascular 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

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, GonzĂ lez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PubMed [citation]
PMID:
16922724

High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.

Olesen MS, Yuan L, Liang B, Holst AG, Nielsen N, Nielsen JB, Hedley PL, Christiansen M, Olesen SP, Haunsø S, Schmitt N, Jespersen T, Svendsen JH.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. Epub 2012 Jun 8.

PubMed [citation]
PMID:
22685113
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090302.3

#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:16922724;PMID:22685113). 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: Jun 17, 2019

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