Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 24, 2021)
Last evaluated:
Nov 11, 2021
Accession:
VCV000003142.3
Variation ID:
3142
Description:
single nucleotide variant
Help

NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)

Allele ID
18181
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2777990 (GRCh38) GRCh38 UCSC
11: 2799220 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P51787:p.Arg583Cys
NC_000011.10:g.2777990C>T
NC_000011.9:g.2799220C>T
... more HGVS
Protein change
R583C, R456C
Other names
p.R583C:CGC>TGC
Canonical SPDI
NC_000011.10:2777989:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
UniProtKB: P51787#VAR_009933
OMIM: 607542.0031
dbSNP: rs17221854
ClinGen: CA006297
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Nov 11, 2021 RCV000182219.3
Likely pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000762837.1
risk factor 1 no assertion criteria provided Apr 23, 2002 RCV000003292.3
Pathogenic 1 no assertion criteria provided Apr 23, 2002 RCV000003291.3
not provided 1 no assertion provided - RCV000057628.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1168 1436

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 11, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234522.10
Submitted: (Nov 24, 2021)
Evidence details
Comment:
Observed in individuals with LQTS (Splawski et al., 2000; Christiansen et al., 2014); Not observed at significant frequency in large population cohorts (Lek et al., … (more)
Likely pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome 2
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893196.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Apr 23, 2002)
no assertion criteria provided
Method: literature only
LONG QT SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV000023449.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
risk factor
(Apr 23, 2002)
no assertion criteria provided
Method: literature only
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000023450.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Aug 10, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002016773.1
Submitted: (Nov 19, 2021)
Evidence details
not provided
(-)
no assertion provided
Method: literature only
Congenital long QT syndrome
Allele origin: germline
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089147.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (4)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10973849;PMID:11997281;PMID:14760488). This is a literature report, and does not necessarily … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. Paulussen AD Journal of molecular medicine (Berlin, Germany) 2004 PMID: 14760488
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Yang P Circulation 2002 PMID: 11997281
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Splawski I Circulation 2000 PMID: 10973849

Text-mined citations for rs17221854...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021