Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 10, 2017
Accession:
VCV000067543.1
Variation ID:
67543
Description:
single nucleotide variant
Help

NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)

Allele ID
78439
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>G
NC_000007.14:g.150958059C>G
NG_008916.1:g.24868G>C
... more HGVS
Protein change
G306R
Other names
-
Canonical SPDI
NC_000007.14:150958058:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA008981
dbSNP: rs199472884
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 10, 2017 RCV000198797.4
Pathogenic 1 no assertion criteria provided Aug 15, 2014 RCV000157261.1
not provided 1 no assertion provided - RCV000058272.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000253680.4
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with arginine at codon 306 of the KCNH2 protein (p.Gly306Arg). The glycine residue is moderately conserved and there is a … (more)
Pathogenic
(Aug 15, 2014)
no assertion criteria provided
Method: clinical testing
Long QT syndrome 2
Allele origin: germline
Blueprint Genetics
Accession: SCV000206991.1
Submitted: (Feb 02, 2015)
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: SCV000089792.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (2)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:18752142). This is a literature report, and does not necessarily … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
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...

Help
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