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NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Mar 15, 2017
Accession:
VCV000405260.1
Variation ID:
405260
Description:
1bp duplication
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NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs)

Allele ID
398601
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 2847865-2847866 (GRCh38) GRCh38 UCSC
11: 2869095-2869096 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.407876dup
LRG_287t2:c.1513dup LRG_287p2:p.Arg505fs
NM_000218.2:c.1894dupA frameshift
... more HGVS
Protein change
R632fs, R505fs
Other names
-
Canonical SPDI
NC_000011.10:2847865:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00000
Links
ClinGen: CA006566
dbSNP: rs397508105
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 Mar 15, 2017 RCV000459335.2
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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
KCNQ1-AS1 - - - GRCh38
GRCh38
- 167

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 15, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000543307.2
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change inserts 1 nucleotide in exon 16 of the KCNQ1 mRNA (c.1894dupA), causing a frameshift at codon 632. This creates a premature translational … (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 rs397508105...

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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