NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) AND Long QT syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000046110.5

Allele description [Variation Report for NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)]

NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)

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_181798.1(KCNQ1):c.343G>A (p.Asp115Asn)
Other names:
p.D242N:GAC>AAC
HGVS:
  • NC_000011.10:g.2572053G>A
  • NG_008935.1:g.132063G>A
  • NM_000218.2:c.724G>A
  • NM_181798.1:c.343G>A
  • NP_000209.2:p.Asp242Asn
  • NP_861463.1:p.Asp115Asn
  • LRG_287t1:c.724G>A
  • LRG_287t2:c.343G>A
  • LRG_287:g.132063G>A
  • LRG_287p1:p.Asp242Asn
  • LRG_287p2:p.Asp115Asn
  • NC_000011.9:g.2593283G>A
  • P51787:p.Asp242Asn
Protein change:
D115N
Links:
UniProtKB: P51787#VAR_008940; dbSNP: rs199472712
NCBI 1000 Genomes Browser:
rs199472712
Molecular consequence:
  • NM_000218.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000074123Invitaecriteria provided, single submitter
Pathogenic
(Jul 8, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

Itoh T, Tanaka T, Nagai R, Kikuchi K, Ogawa S, Okada S, Yamagata S, Yano K, Yazaki Y, Nakamura Y.

Hum Genet. 1998 Sep;103(3):290-4.

PubMed [citation]
PMID:
9799083

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.

Circulation. 2007 May 15;115(19):2481-9. Epub 2007 Apr 30.

PubMed [citation]
PMID:
17470695
PMCID:
PMC3332528
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV000074123.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change replaces aspartic acid with asparagine at codon 242 of the KCNQ1 protein (p.Asp242Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs199472712, ExAC <0.01%). This variant has been observed in individuals affected with long QT syndrome (PMID: 9799083, 17470695, 28739325). ClinVar contains an entry for this variant (Variation ID: 53090). Experimental studies have shown that this missense change causes a reduction in channel current compared to wild-type (PMID: 25705178, 28739325, 29167462). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 7, 2021

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