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NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 22, 2016)
Accession:
VCV000067290.1
Variation ID:
67290
Description:
single nucleotide variant
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NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)

Allele ID
78186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951562 (GRCh38) GRCh38 UCSC
7: 150648650 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000238.3:c.1831T>G NP_000229.1:p.Tyr611Asp missense
LRG_288t1:c.1831T>G LRG_288p1:p.Tyr611Asp
LRG_288:g.31365T>G
... more HGVS
Protein change
Y271D, Y611D
Other names
-
Canonical SPDI
NC_000007.14:150951561:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA005628
dbSNP: rs199472942
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 no assertion criteria provided - RCV000190215.1
not provided 1 no assertion provided - RCV000058007.3
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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
2037 2108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Long QT syndrome
Allele origin: germline
Medical Research Institute,Tokyo Medical and Dental University
Additional submitter:
Division of Diabetes and Metabolic Diseases,Graduate School of Medicine, University of Tokyo
Accession: SCV000222066.1
Submitted: (Apr 16, 2015)
Evidence details
Publications
PubMed (1)
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: SCV000089527.3
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:20541041). 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
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. Shigemizu D PloS one 2015 PMID: 26132555
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Itoh H Heart rhythm 2010 PMID: 20541041

Text-mined citations for rs199472942...

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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 24, 2021