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NM_181798.1(KCNQ1):c.416T>G (p.Leu139Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000393006.4
Variation ID:
393006
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.416T>G (p.Leu139Arg)

Allele ID
372345
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572862 (GRCh38) GRCh38 UCSC
11: 2594092 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.132872T>G
LRG_287t1:c.797T>G LRG_287p1:p.Leu266Arg
LRG_287t2:c.416T>G LRG_287p2:p.Leu139Arg
... more HGVS
Protein change
L139R, L266R
Other names
-
Canonical SPDI
NC_000011.10:2572861:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16606299
dbSNP: rs199473460
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 Jan 20, 2017 RCV000442048.1
Likely pathogenic 1 criteria provided, single submitter Sep 23, 2020 RCV001205787.2
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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
(Jan 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000536354.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant that is likely pathogenic was identified in the KCNQ1 gene. The L266R variant has not been published in association with LQTS to our … (more)
Likely pathogenic
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001377062.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces leucine with arginine at codon 266 of the KCNQ1 protein (p.Leu266Arg). The leucine residue is highly conserved and there is a … (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
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Giudicessi JR Circulation. Cardiovascular genetics 2012 PMID: 22949429
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. Jons C Science translational medicine 2011 PMID: 21451124
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? Rice KS Heart rhythm 2011 PMID: 21118729
Long QT and Brugada syndrome gene mutations in New Zealand. Chung SK Heart rhythm 2007 PMID: 17905336
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Moss AJ Circulation 2007 PMID: 17470695
Activity-dependent development of spinal cord motor neurons. Kalb RG Brain research. Brain research reviews 1992 PMID: 1467812

Text-mined citations for rs199473460...

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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 08, 2021