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NM_181798.1(KCNQ1):c.870+13C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Mar 26, 2018)
Last evaluated:
Apr 26, 2017
Accession:
VCV000304220.2
Variation ID:
304220
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.870+13C>T

Allele ID
319980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2587705 (GRCh38) GRCh38 UCSC
11: 2608935 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.147715C>T
LRG_287t2:c.870+13C>T
LRG_287t1:c.1251+13C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2587704:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00015
Links
ClinGen: CA027925
dbSNP: rs201364493
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000285772.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000291801.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000325517.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000343082.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000382413.2
Likely benign 1 criteria provided, single submitter Apr 26, 2017 RCV000609343.1
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Long QT Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370292.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Romano-Ward Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370294.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Atrial Fibrillation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370291.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Short QT Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370293.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370290.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Apr 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000718855.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs201364493...

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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 Sep 29, 2021