NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: May 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622251.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)]

NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)

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.1555C>T (p.Arg519Cys)
HGVS:
  • NC_000011.10:g.2768884C>T
  • NG_008935.1:g.328894C>T
  • NM_000218.2:c.1555C>T
  • NM_000218.3:c.1555C>TMANE SELECT
  • NM_181798.1:c.1174C>T
  • NP_000209.2:p.Arg519Cys
  • NP_000209.2:p.Arg519Cys
  • NP_861463.1:p.Arg392Cys
  • LRG_287t1:c.1555C>T
  • LRG_287t2:c.1174C>T
  • LRG_287:g.328894C>T
  • LRG_287p1:p.Arg519Cys
  • LRG_287p2:p.Arg392Cys
  • NC_000011.9:g.2790114C>T
Protein change:
R392C
Links:
dbSNP: rs199472787
NCBI 1000 Genomes Browser:
rs199472787
Molecular consequence:
  • NM_000218.2:c.1555C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.1555C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000738004Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 19, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA.

J Med Genet. 2003 Feb;40(2):141-5. No abstract available.

PubMed [citation]
PMID:
12566525
PMCID:
PMC1735373

Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

Li Y, Gao J, Lu Z, McFarland K, Shi J, Bock K, Cohen IS, Cui J.

Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18922-7. doi: 10.1073/pnas.1315649110. Epub 2013 Nov 4.

PubMed [citation]
PMID:
24190995
PMCID:
PMC3839694

Details of each submission

From Ambry Genetics, SCV000738004.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.R519C variant (also known as c.1555C>T), located in coding exon 12 of the KCNQ1 gene, results from a C to T substitution at nucleotide position 1555. The arginine at codon 519 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was reported once in a cohort of subjects with long QT syndrome (LQTS); however, clinical details were limited (Van Langen IM et al. J. Med. Genet., 2003 Feb;40:141-5). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 26, 2021

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