NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182219.2

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234522GeneDxcriteria provided, single submitter
Pathogenic
(Oct 18, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234522.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg583Cys (R583C) CGC>TGC: c.1747 C>T in exon 15 of the KCNQ1 gene (NM_000218.2). The Arg583Cys mutation in the KCNQ1 gene has been reported in one individual with LQTS and it was absent from more than 400 control chromosomes (Splawski I et al., 2000). Furthermore, the Arg583Cys mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. One in vitro study indicated Arg583Cys resulted a mild functional change in the ion current of the potassium channel (Yang P et al., 2002). Arg583Cys results in a semi-conservative amino acid substitution of a positively charged Arginine with a neutral, polar Cysteine at a position that is conserved in mammals. Mutations in this residue (Arg583His) and in nearby residues (Val576Leu, Asn586Asp) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. The variant is found in LQT panel(s).

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

Last Updated: Oct 25, 2021

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