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NM_181798.1(KCNQ1):c.545C>T (p.Thr182Ile)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 29, 2020
Accession:
VCV000053132.2
Variation ID:
53132
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.545C>T (p.Thr182Ile)

Allele ID
67800
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2583439 (GRCh38) GRCh38 UCSC
11: 2604669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2583439C>T
NC_000011.9:g.2604669C>T
NG_008935.1:g.143449C>T
... more HGVS
Protein change
T309I, T182I
Other names
-
Canonical SPDI
NC_000011.10:2583438:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA008720
dbSNP: rs199472743
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 29, 2020 RCV001379437.1
not provided 1 no assertion provided - RCV000057803.3
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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
Likely pathogenic
(Jul 29, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001577240.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces threonine with isoleucine at codon 309 of the KCNQ1 protein (p.Thr309Ile). The threonine residue is highly conserved and there is a … (more)
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: SCV000089323.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (2)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:11802537). This is a literature report, and does not necessarily … (more)

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
Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients. Chang YS International heart journal 2015 PMID: 26118593
UniProt: a hub for protein information. UniProt Consortium. Nucleic acids research 2015 PMID: 25348405
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Kapa S Circulation 2009 PMID: 19841300
Linkage and mutation analysis in two Taiwanese families with long QT syndrome. Ko YL Journal of the Formosan Medical Association = Taiwan yi zhi 2001 PMID: 11802537
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Saarinen K Human mutation 1998 PMID: 9482580

Text-mined citations for rs199472743...

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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 08, 2021