NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) 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:
RCV000058455.3

Allele description [Variation Report for NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu)]

NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu)

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_000335.4(SCN5A):c.1844G>A (p.Gly615Glu)
Other names:
p.G615E:GGA>GAA
HGVS:
  • NC_000003.12:g.38603758C>T
  • NG_008934.1:g.50915G>A
  • NM_000335.4:c.1844G>A
  • NM_001099404.1:c.1844G>A
  • NM_198056.2:c.1844G>A
  • NP_000326.2:p.Gly615Glu
  • NP_001092874.1:p.Gly615Glu
  • NP_932173.1:p.Gly615Glu
  • LRG_289t1:c.1844G>A
  • LRG_289t2:c.1844G>A
  • LRG_289t3:c.1844G>A
  • LRG_289:g.50915G>A
  • LRG_289p1:p.Gly615Glu
  • LRG_289p2:p.Gly615Glu
  • LRG_289p3:p.Gly615Glu
  • NC_000003.11:g.38645249C>T
  • Q14524:p.Gly615Glu
Protein change:
G615E
Links:
UniProtKB: Q14524#VAR_026358; dbSNP: rs12720452
NCBI 1000 Genomes Browser:
rs12720452
Allele Frequency:
0.00023(T), GO-ESP
Molecular consequence:
  • NM_000335.4:c.1844G>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
SCV000089975Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (5)
[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

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J.

J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4.

PubMed [citation]
PMID:
14760488

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476
See all PubMed Citations (5)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089975.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:14760488;PMID:15840476;PMID:19716085;PMID:19841300). 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: Oct 10, 2018