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NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu) AND Congenital long QT syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000057750.5

Allele description [Variation Report for NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu)]

NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.760G>C (p.Val254Leu)
HGVS:
  • NC_000011.10:g.2572089G>C
  • NG_008935.1:g.132099G>C
  • NM_000218.3:c.760G>CMANE SELECT
  • NM_001406836.1:c.760G>C
  • NM_001406837.1:c.490G>C
  • NM_181798.2:c.379G>C
  • NP_000209.2:p.Val254Leu
  • NP_000209.2:p.Val254Leu
  • NP_001393765.1:p.Val254Leu
  • NP_001393766.1:p.Val164Leu
  • NP_861463.1:p.Val127Leu
  • NP_861463.1:p.Val127Leu
  • LRG_287t1:c.760G>C
  • LRG_287t2:c.379G>C
  • LRG_287:g.132099G>C
  • LRG_287p1:p.Val254Leu
  • LRG_287p2:p.Val127Leu
  • NC_000011.9:g.2593319G>C
  • NM_000218.2:c.760G>C
  • NM_181798.1:c.379G>C
  • NR_040711.2:n.653G>C
  • P51787:p.Val254Leu
Protein change:
V127L
Links:
UniProtKB: P51787#VAR_074961; dbSNP: rs120074179
NCBI 1000 Genomes Browser:
rs120074179
Molecular consequence:
  • NM_000218.3:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.490G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.379G>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089269Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W, Moss AJ, Sheu G, Kaufman ES, Priori S, Vincent GM, Towbin JA, Benhorin J, Schwartz PJ, Napolitano C, Hall WJ, Keating MT, Qi M, Robinson J, Andrews ML; International LQTS Registry, University of Rochester, Rochester, New York..

J Cardiovasc Electrophysiol. 2003 Nov;14(11):1149-53.

PubMed [citation]
PMID:
14678125

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089269.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:14678125). 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: Mar 26, 2023