NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) AND Long QT syndrome 1

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001102707.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)]

NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)

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.534C>T (p.Ala178=)
HGVS:
  • NC_000011.10:g.2570684C>T
  • NG_008935.1:g.130694C>T
  • NM_000218.3:c.534C>TMANE SELECT
  • NM_181798.1:c.153C>T
  • NP_000209.2:p.Ala178=
  • NP_861463.1:p.Ala51=
  • LRG_287t1:c.534C>T
  • LRG_287t2:c.153C>T
  • LRG_287:g.130694C>T
  • LRG_287p2:p.Ala51=
  • NC_000011.9:g.2591914C>T
  • NM_000218.2:c.534C>T
Links:
Molecular consequence:
  • NM_000218.3:c.534C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.1:c.153C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001259392Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P.

J Am Coll Cardiol. 2004 Mar 3;43(5):826-30.

PubMed [citation]
PMID:
14998624

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001259392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 7, 2021

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