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NM_172056.2(KCNH2):c.1933A>T (p.Met645Leu)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Sep 22, 2016)
Accession:
VCV000067342.1
Variation ID:
67342
Description:
single nucleotide variant
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NM_172056.2(KCNH2):c.1933A>T (p.Met645Leu)

Allele ID
78238
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951460 (GRCh38) GRCh38 UCSC
7: 150648548 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150648548T>A
NC_000007.14:g.150951460T>A
NM_000238.3:c.1933A>T NP_000229.1:p.Met645Leu missense
... more HGVS
Protein change
M305L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs199472974
ClinGen: CA006054
UniProtKB: Q12809#VAR_014382
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000058061.3
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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
1317 1380

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000089581.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (5)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10973849;PMID:12566525;PMID:15051636;PMID:19926013). This is a literature report, and does not necessarily ... (more)

Citations for this variant

Title Author Journal Year Link
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Genotype-phenotype aspects of type 2 long QT syndrome. Shimizu W Journal of the American College of Cardiology 2009 PMID: 19926013
Compound mutations: a common cause of severe long-QT syndrome. Westenskow P Circulation 2004 PMID: 15051636
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. Van Langen IM Journal of medical genetics 2003 PMID: 12566525
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Splawski I Circulation 2000 PMID: 10973849

Record last updated Jan 08, 2020