NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) AND Long QT syndrome 1

Clinical significance:Pathogenic (Last evaluated: Apr 23, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003291.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)]

NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)

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.1747C>T (p.Arg583Cys)
Other names:
p.R583C:CGC>TGC
HGVS:
  • NC_000011.10:g.2777990C>T
  • NG_008935.1:g.338000C>T
  • NM_000218.2:c.1747C>T
  • NM_000218.3:c.1747C>TMANE SELECT
  • NM_181798.1:c.1366C>T
  • NP_000209.2:p.Arg583Cys
  • NP_000209.2:p.Arg583Cys
  • NP_861463.1:p.Arg456Cys
  • LRG_287t1:c.1747C>T
  • LRG_287t2:c.1366C>T
  • LRG_287:g.338000C>T
  • LRG_287p1:p.Arg583Cys
  • LRG_287p2:p.Arg456Cys
  • NC_000011.9:g.2799220C>T
  • P51787:p.Arg583Cys
Protein change:
R456C; ARG583CYS
Links:
UniProtKB: P51787#VAR_009933; OMIM: 607542.0031; dbSNP: rs17221854
NCBI 1000 Genomes Browser:
rs17221854
Molecular consequence:
  • NM_000218.2:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1366C>T - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023449OMIMno assertion criteria providedPathogenic
(Apr 23, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

PubMed [citation]
PMID:
10973849

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM.

Circulation. 2002 Apr 23;105(16):1943-8.

PubMed [citation]
PMID:
11997281

Details of each submission

From OMIM, SCV000023449.2

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

Description

In a patient with long QT syndrome (192500), Splawski et al. (2000) identified heterozygosity for a 1747C-T transition in exon 15 of the KCNQ1 gene, resulting in an arg583-to-cys (R583C) substitution.

In a patient who developed QT prolongation and torsade de pointes while taking the drug dofetilide (see 192500), Yang et al. (2002) identified heterozygosity for an R583C mutation in the KCNQ1 gene. The mutation was not found in 228 controls. In vitro expression studies of the mutant protein confirmed a significant reduction in potassium currents, suggesting that the R583C mutation was responsible for the patient's response to dofetilide.

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

Last Updated: Nov 27, 2021

Support Center