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NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) AND Long QT syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1996
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000003265.10

Allele description [Variation Report for NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)]

NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)

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>A (p.Val254Met)
Other names:
p.V254M:GTG>ATG
HGVS:
  • NC_000011.10:g.2572089G>A
  • NG_008935.1:g.132099G>A
  • NM_000218.3:c.760G>AMANE SELECT
  • NM_001406836.1:c.760G>A
  • NM_001406837.1:c.490G>A
  • NM_181798.2:c.379G>A
  • NP_000209.2:p.Val254Met
  • NP_000209.2:p.Val254Met
  • NP_001393765.1:p.Val254Met
  • NP_001393766.1:p.Val164Met
  • NP_861463.1:p.Val127Met
  • NP_861463.1:p.Val127Met
  • LRG_287t1:c.760G>A
  • LRG_287t2:c.379G>A
  • LRG_287:g.132099G>A
  • LRG_287p1:p.Val254Met
  • LRG_287p2:p.Val127Met
  • NC_000011.9:g.2593319G>A
  • NM_000218.2:c.760G>A
  • NM_181798.1:c.379G>A
  • NR_040711.2:n.653G>A
  • P51787:p.Val254Met
Protein change:
V127M; VAL254MET
Links:
UniProtKB: P51787#VAR_001522; OMIM: 607542.0005; OMIM: 607542.0035; dbSNP: rs120074179
NCBI 1000 Genomes Browser:
rs120074179
Molecular consequence:
  • NM_000218.3:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023423OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1996) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT.

Nat Genet. 1996 Jan;12(1):17-23.

PubMed [citation]
PMID:
8528244

Details of each submission

From OMIM, SCV000023423.1

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

Description

In a kindred in which 70 members were affected by LQT1 (192500), Wang et al. (1996) used SSCP analysis to demonstrate a GTG (val) to ATG (met) transition in codon 159 of the KVLQT1 gene. (This variant used to be known as VAL125MET and VAL159MET.)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024