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NM_000218.3(KCNQ1):c.1032+2T>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 7, 2019
Accession:
VCV000939724.2
Variation ID:
939724
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.1032+2T>C

Allele ID
940209
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2583547 (GRCh38) GRCh38 UCSC
11: 2604777 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.143557T>C
LRG_287t1:c.1032+2T>C
LRG_287t2:c.651+2T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2583546:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jun 7, 2019 RCV001209167.2
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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
(Jun 07, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001380590.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 7 of the KCNQ1 gene. It is expected to disrupt RNA splicing and likely results … (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
The genetic basis of long QT and short QT syndromes: a mutation update. Hedley PL Human mutation 2009 PMID: 19862833
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Kapplinger JD Heart rhythm 2009 PMID: 19716085
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Shalaby FY Circulation 1997 PMID: 9323054

Record last updated Oct 08, 2021