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NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 17, 2019
Accession:
VCV000067321.4
Variation ID:
67321
Description:
single nucleotide variant
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NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)

Allele ID
78217
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951499 (GRCh38) GRCh38 UCSC
7: 150648587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q12809:p.Pro632Ser
NC_000007.13:g.150648587G>A
NC_000007.14:g.150951499G>A
... more HGVS
Protein change
P292S, P632S
Other names
p.P632S:CCC>TCC
Canonical SPDI
NC_000007.14:150951498:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA005893
UniProtKB: Q12809#VAR_014378
dbSNP: rs199473527
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 23, 2014 RCV000181824.1
Likely pathogenic 1 criteria provided, single submitter Sep 17, 2019 RCV000621397.1
not provided 1 no assertion provided - RCV000058040.3
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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
2038 2109

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 23, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234127.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Pro632Ser (CCC>TCC): c.1894 C>T in exon 7 of the KCNH2 gene (NM_000238.2). The P632S mutation in the KCNH2 gene has been reported in one individual … (more)
Likely pathogenic
(Sep 17, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737460.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The p.P632S variant (also known as c.1894C>T), located in coding exon 7 of the KCNH2 gene, results from a C to T substitution at nucleotide … (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: SCV000089560.3
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:10973849). 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
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Anderson CL Nature communications 2014 PMID: 25417810
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. Andrsova I Journal of electrocardiology 2012 PMID: 22727609
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Splawski I Circulation 2000 PMID: 10973849

Text-mined citations for rs199473527...

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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 Dec 04, 2021