NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) 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:
RCV000058079.3

Allele description

NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro)
Other names:
p.L693P:CTG>CCG
HGVS:
  • NC_000007.14:g.150950988A>G
  • NG_008916.1:g.31939T>C
  • NM_000238.3:c.2078T>C
  • NM_172056.2:c.2078T>C
  • NM_172057.2:c.1058T>C
  • NP_000229.1:p.Leu693Pro
  • NP_742053.1:p.Leu693Pro
  • NP_742054.1:p.Leu353Pro
  • LRG_288t1:c.2078T>C
  • LRG_288t2:c.2078T>C
  • LRG_288t3:c.1058T>C
  • LRG_288:g.31939T>C
  • LRG_288p1:p.Leu693Pro
  • LRG_288p2:p.Leu693Pro
  • LRG_288p3:p.Leu353Pro
  • NC_000007.13:g.150648076A>G
  • NM_000238.2:c.2078T>C
  • Q12809:p.Leu693Pro
Protein change:
L353P
Links:
UniProtKB: Q12809#VAR_074869; dbSNP: rs199472983
NCBI 1000 Genomes Browser:
rs199472983
Molecular consequence:
  • NM_000238.3:c.2078T>C - 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
SCV000089599Cardiovascular 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 and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

PubMed [citation]
PMID:
19841300
PMCID:
PMC3025752
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089599.3

#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: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: Jun 14, 2017