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NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 29, 2021)
Last evaluated:
Apr 29, 2021
Accession:
VCV000200858.6
Variation ID:
200858
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)

Allele ID
197504
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2778023 (GRCh38) GRCh38 UCSC
11: 2799253 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.338033C>T
LRG_287t1:c.1780C>T LRG_287p1:p.Arg594Ter
NC_000011.10:g.2778023C>T
... more HGVS
Protein change
R467*, R594*
Other names
p.R594*:CGA>TGA
Canonical SPDI
NC_000011.10:2778022:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA006380
dbSNP: rs794728537
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 29, 2021 RCV000182227.3
Pathogenic 1 criteria provided, single submitter Sep 11, 2018 RCV000815960.1
Likely pathogenic 1 criteria provided, single submitter Feb 7, 2020 RCV001449795.1
Likely pathogenic 1 no assertion criteria provided Feb 26, 2019 RCV000770826.1
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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
1161 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 29, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234530.13
Submitted: (Sep 29, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population … (more)
Pathogenic
(Sep 11, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000956441.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change results in a premature translational stop signal in the KCNQ1 gene (p.Arg594*). While this is not anticipated to result in nonsense mediated … (more)
Likely pathogenic
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital long QT syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV001653077.1
Submitted: (May 27, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The p.Arg594X variant in KCNQ1 has been reported in 2 individuals with long QT syndrome (LQTS; Stattin 2012, Itoh 2015). It was also reported in … (more)
Likely pathogenic
(Feb 26, 2019)
no assertion criteria provided
Method: case-control
Long QT syndrome 1
Allele origin: inherited
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital
Accession: SCV000902325.1
Submitted: (Apr 29, 2019)
Evidence details

Functional evidence

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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

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Title Author Journal Year Link
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Itoh H European journal of human genetics : EJHG 2016 PMID: 26669661
Genotype-phenotype correlation in long QT syndrome families. Qureshi SF Indian pacing and electrophysiology journal 2015 PMID: 27479201
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. Sung JY Annals of laboratory medicine 2014 PMID: 25187895
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Lieve KV Genetic testing and molecular biomarkers 2013 PMID: 23631430
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. Stattin EL BMC cardiovascular disorders 2012 PMID: 23098067
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. Sato A The Journal of biological chemistry 2009 PMID: 19825999
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. Novotny T Pacing and clinical electrophysiology : PACE 2006 PMID: 16981927
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Neyroud N Circulation research 1999 PMID: 10024302

Text-mined citations for rs794728537...

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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 Oct 06, 2021