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NM_000218.3(KCNQ1):c.1394-1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 18, 2020
Accession:
VCV001066272.1
Variation ID:
1066272
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.1394-1G>C

Allele ID
1056009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2661960 (GRCh38) GRCh38 UCSC
11: 2683190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2661960G>C
NC_000011.9:g.2683190G>C
NG_008935.1:g.221970G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2661959:G: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 Apr 18, 2020 RCV001377231.1

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 18, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001574506.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 10 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
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