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NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000052994.7
Variation ID:
52994
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly)

Allele ID
67662
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2768900 (GRCh38) GRCh38 UCSC
11: 2790130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P51787:p.Val524Gly
NC_000011.10:g.2768900T>G
NC_000011.9:g.2790130T>G
... more HGVS
Protein change
V524G, V397G
Other names
p.V524G:GTG>GGG
Canonical SPDI
NC_000011.10:2768899:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA005943
UniProtKB: P51787#VAR_068315
dbSNP: rs199472790
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 Oct 30, 2020 RCV000046000.9
Pathogenic 3 criteria provided, single submitter Nov 25, 2020 RCV000182201.7
not provided 1 no assertion provided - RCV000057599.3
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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 -

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234504.11
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); Published functional studies with low cytometry of V524G-transfected HEK293 cells showed significantly reduced surface trafficking … (more)
Likely pathogenic
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000074013.9
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces valine with glycine at codon 524 of the KCNQ1 protein (p.Val524Gly). The valine residue is moderately conserved and there is a … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001922124.1
Submitted: (Sep 23, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956877.1
Submitted: (Sep 30, 2021)
Evidence details
not provided
(-)
no assertion provided
Method: literature only
Congenital long QT syndrome
Allele origin: germline
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089118.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (7)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:14678125;PMID:15466642;PMID:15840476;PMID:19716085;PMID:19841300;PMID:17470695). This is a literature report, and does not necessarily … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders. Bos JM Circulation. Arrhythmia and electrophysiology 2013 PMID: 23728945
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
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Kapa S Circulation 2009 PMID: 19841300
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
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
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Tester DJ Heart rhythm 2005 PMID: 15840476
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Choi G Circulation 2004 PMID: 15466642
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. Zareba W Journal of cardiovascular electrophysiology 2003 PMID: 14678125

Text-mined citations for rs199472790...

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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