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NM_181798.1(KCNQ1):c.1095A>G (p.Glu365=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(4);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
11 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 15, 2020
Accession:
VCV000200812.10
Variation ID:
200812
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.1095A>G (p.Glu365=)

Allele ID
197488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2662043 (GRCh38) GRCh38 UCSC
11: 2683273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1052:g.42956T>C
LRG_1052t1:n.37956T>C
NC_000011.10:g.2662043A>G
... more HGVS
Protein change
-
Other names
p.E492E:GAA>GAG
Canonical SPDI
NC_000011.10:2662042:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Links
ClinGen: CA005791
dbSNP: rs370676650
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Jul 3, 2014 RCV000182073.2
Likely benign 1 criteria provided, single submitter Nov 15, 2020 RCV000472516.5
Likely benign 1 criteria provided, single submitter May 15, 2017 RCV000618365.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001103009.1
Likely benign 1 criteria provided, single submitter Apr 28, 2017 RCV001103011.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001103008.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001103010.1
Likely benign 1 criteria provided, single submitter Jan 20, 2019 RCV001181076.1
Likely benign 2 no assertion criteria provided - RCV001701547.2

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 03, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000234376.10
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)
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259717.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259719.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259718.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Short QT syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259720.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Jan 20, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001346151.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738005.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 15, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000555804.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001926125.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932594.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971987.1
Submitted: (Sep 21, 2021)
Evidence details

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
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Jongbloed R Human mutation 2002 PMID: 12402336

Text-mined citations for rs370676650...

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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