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NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 2, 2019
Accession:
VCV000053115.4
Variation ID:
53115
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)

Allele ID
67783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572895 (GRCh38) GRCh38 UCSC
11: 2594125 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P51787:p.Ser277Trp
NC_000011.10:g.2572895C>G
NC_000011.9:g.2594125C>G
... more HGVS
Protein change
S277W, S150W
Other names
p.S277W:TCG>TGG
Canonical SPDI
NC_000011.10:2572894:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA008428
UniProtKB: P51787#VAR_074970
dbSNP: rs199472730
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 Oct 2, 2019 RCV000046141.4
Pathogenic 1 criteria provided, single submitter Jan 16, 2012 RCV000182308.1
not provided 1 no assertion provided - RCV000057774.3
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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
(Oct 02, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000074154.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces serine with tryptophan at codon 277 of the KCNQ1 protein (p.Ser277Trp). The serine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 16, 2012)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234611.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This missense change is denoted Ser277Trp (aka S277W) at the protein level and c.830 C>G at the cDNA level. The Ser277Trp mutation in the KCNQ1 … (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: SCV000089293.3
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:16414944). 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
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. Couderc JP Journal of the American Heart Association 2012 PMID: 23130128
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L. Chen J Pacing and clinical electrophysiology : PACE 2011 PMID: 21895724
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. Napolitano C JAMA 2005 PMID: 16414944
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Liu W Human mutation 2002 PMID: 12442276
- - - - PMID: 21241880

Text-mined citations for rs199472730...

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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 24, 2021