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NM_172057.2(KCNH2):c.1867C>A (p.Pro623Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 10, 2018)
Last evaluated:
Aug 7, 2017
Accession:
VCV000067449.1
Variation ID:
67449
Description:
single nucleotide variant
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NM_172057.2(KCNH2):c.1867C>A (p.Pro623Thr)

Allele ID
78345
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150947684 (GRCh38) GRCh38 UCSC
7: 150644772 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150644772G>T
NC_000007.14:g.150947684G>T
NM_000238.3:c.2887C>A NP_000229.1:p.Pro963Thr missense
... more HGVS
Protein change
P623T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA007577
dbSNP: rs199473014
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 7, 2017 RCV000756285.1
not provided 1 no assertion provided - RCV000058176.3
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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
Uncertain significance
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884050.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The p.Pro963Thr variant (rs199473014) was reported in one patient in a cohort of ~400, and determined as one of C-terminal variants in KCNH2 with elevated ... (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: SCV000089696.3
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:19841300). 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
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Kapa S Circulation 2009 PMID: 19841300

Record last updated Jan 08, 2020