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NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Dec 22, 2017
Accession:
VCV000067544.2
Variation ID:
67544
Description:
single nucleotide variant
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NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)

Allele ID
78440
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150958059 (GRCh38) GRCh38 UCSC
7: 150655147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150655147C>A
NC_000007.14:g.150958059C>A
NG_008916.1:g.24868G>T
... more HGVS
Protein change
G306W
Other names
p.G306W:GGG>TGG
Canonical SPDI
NC_000007.14:150958058:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA008988
dbSNP: rs199472884
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 Jun 10, 2016 RCV000182020.2
Likely pathogenic 1 criteria provided, single submitter Dec 22, 2017 RCV000229643.3
not provided 1 no assertion provided - RCV000058273.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2038 2109

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000283989.4
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with tryptophan at codon 306 of the KCNH2 protein (p.Gly306Trp). The glycine residue is moderately conserved and there is a … (more)
Likely pathogenic
(Jun 10, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234323.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G306W variant in the KCNH2 gene has been reported in at least one individual with LQTS and has not been observed in >1000 control … (more)
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: SCV000089793.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (3)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15840476;PMID:19841300). 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
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
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Johnson JN Neurology 2009 PMID: 19038855
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Berge KE Scandinavian journal of clinical and laboratory investigation 2008 PMID: 18752142
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Tester DJ Heart rhythm 2005 PMID: 15840476

Text-mined citations for rs199472884...

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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 Dec 04, 2021