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NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)

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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:
Sep 10, 2020
Accession:
VCV000053066.4
Variation ID:
53066
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)

Allele ID
67734
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2570710 (GRCh38) GRCh38 UCSC
11: 2591940 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2570710T>C
NC_000011.9:g.2591940T>C
NG_008935.1:g.130720T>C
... more HGVS
Protein change
L187P, L60P
Other names
p.L187P:CTC>CCC
Canonical SPDI
NC_000011.10:2570709:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs199473399
ClinGen: CA007460
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 10, 2020 RCV000046081.6
Pathogenic 1 criteria provided, single submitter May 13, 2014 RCV000182084.2
not provided 1 no assertion provided - RCV000057701.3
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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 10, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000074094.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces leucine with proline at codon 187 of the KCNQ1 protein (p.Leu187Pro). The leucine residue is weakly conserved and there is a … (more)
Pathogenic
(May 13, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234387.9
Submitted: (Jul 13, 2017)
Evidence details
Comment:
p.Leu187Pro (CTC>CCC): c.560 T>C in exon 3 of the KCNQ1 gene (NM_000218.2). The L187P mutation in the KCNQ1 gene has been reported previously in association … (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: SCV000089220.3
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:18808722). 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
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance. Vanoye CG Circulation. Genomic and precision medicine 2018 PMID: 30571187
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
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. Zhang X BMC medical genetics 2008 PMID: 18808722

Text-mined citations for rs199473399...

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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