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NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 14, 2017)
Last evaluated:
Sep 26, 2016
Accession:
VCV000052928.1
Variation ID:
52928
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe)

Allele ID
67596
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2583526 (GRCh38) GRCh38 UCSC
11: 2604756 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2583526C>T
NC_000011.9:g.2604756C>T
NG_008935.1:g.143536C>T
... more HGVS
Protein change
S338F, S211F
Other names
-
Canonical SPDI
NC_000011.10:2583525:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA004825
dbSNP: rs199472758
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 Sep 26, 2016 RCV000045928.3
not provided 1 no assertion provided - RCV000057523.3
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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
(Sep 26, 2016)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000073941.4
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces serine with phenylalanine at codon 338 of the KCNQ1 protein (p.Ser338Phe). The serine 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: SCV000089042.3
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:19862833). 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
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
The genetic basis of long QT and short QT syndromes: a mutation update. Hedley PL Human mutation 2009 PMID: 19862833

Text-mined citations for rs199472758...

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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