NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) AND Long QT syndrome 1

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2001)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)]

NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)

KCNQ1:potassium channel, voltage gated KQT-like subfamily Q, member 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)
  • NC_000011.10:g.2778009G>A
  • NG_008935.1:g.338019G>A
  • NM_000218.2:c.1766G>A
  • NM_181798.1:c.1385G>A
  • NP_000209.2:p.Gly589Asp
  • NP_861463.1:p.Gly462Asp
  • LRG_287t1:c.1766G>A
  • LRG_287t2:c.1385G>A
  • LRG_287:g.338019G>A
  • LRG_287p1:p.Gly589Asp
  • LRG_287p2:p.Gly462Asp
  • NC_000011.9:g.2799239G>A
  • NR_040711.2:n.1659G>A
  • p.G589D:GGC>GAC
Protein change:
G462D; GLY589ASP
OMIM: 607542.0029; dbSNP: 120074190
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000218.2:c.1766G>A - missense variant - [Sequence Ontology: SO:0001583]


Long QT syndrome 1 (LQT1)
Romano-Ward syndrome
MedGen: C0035828; Orphanet: 101016; Orphanet: 768; OMIM: 192500
1-5 / 10 000 101016768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000023446OMIMno assertion criteria providedPathogenic
(Feb 1, 2001)
germlineliterature only

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

Summary from all submissions

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



A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

J Am Coll Cardiol. 2001 Feb;37(2):562-8.

PubMed [citation]

Details of each submission

From OMIM, SCV000023446.1

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


Piippo et al. (2001) identified a novel missense mutation in Finns with Jervell and Lange-Nielsen syndrome (220400) or long QT syndrome (192500). The mutation, a glycine-to-aspartic acid substitution at codon 589 (G589D) in the C terminus of the KCNQ1 subunit, was identified in homozygous state in 2 sibs with Jervell and Lange-Nielsen syndrome and in heterozygous state in 34 of 114 probands with Romano-Ward syndrome and 282 family members. The mean rate-corrected QT intervals of the 316 heterozygous subjects and 423 noncarriers were 460 +/- 40 ms and 410 +/- 20 ms (p less than 0.001), respectively. Piippo et al. (2001) concluded that the G589D mutation accounts for 30% of Finnish cases with long QT syndrome and may be associated with both Romano-Ward and Jervell and Lange-Nielsen phenotypes of the syndrome. They suggested that the relative enrichment of this mutation most likely represents a founder gene effect.

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

Last Updated: Nov 28, 2015