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NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2019
Accession:
VCV000943187.2
Variation ID:
943187
Description:
2bp indel
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NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)

Allele ID
933771
Variant type
Indel
Variant length
2 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951097-150951098 (GRCh38) GRCh38 UCSC
7: 150648185-150648186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_288:g.31829_31830delinsTT
LRG_288t1:c.1968_1969delinsTT
LRG_288t2:c.1968_1969delinsTT LRG_288p2:p.Gly657Cys
... more HGVS
Protein change
G657C, G317C
Other names
-
Canonical SPDI
NC_000007.14:150951096:CG:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Nov 6, 2019 RCV001213328.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2026 2097

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 06, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001384954.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces glycine with cysteine at codon 657 of the KCNH2 protein (p.Gly657Cys). The glycine 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
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations. Perry MD The Journal of physiology 2016 PMID: 26958806
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. Seethala S Journal of the American Heart Association 2015 PMID: 26675252
The genetic basis of long QT and short QT syndromes: a mutation update. Hedley PL Human mutation 2009 PMID: 19862833
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
hERG gating microdomains defined by S6 mutagenesis and molecular modeling. Wynia-Smith SL The Journal of general physiology 2008 PMID: 18955593
Activation gating of hERG potassium channels: S6 glycines are not required as gating hinges. Hardman RM The Journal of biological chemistry 2007 PMID: 17823114

Record last updated Oct 08, 2021