Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_172056.2(KCNH2):c.1918T>C (p.Phe640Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 25, 2018
Accession:
VCV000200751.2
Variation ID:
200751
Description:
single nucleotide variant
Help

NM_172056.2(KCNH2):c.1918T>C (p.Phe640Leu)

Allele ID
197243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951475 (GRCh38) GRCh38 UCSC
7: 150648563 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150648563A>G
NC_000007.14:g.150951475A>G
NM_000238.3:c.1918T>C NP_000229.1:p.Phe640Leu missense
... more HGVS
Protein change
F300L
Other names
p.F640L:TTC>CTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA006010
UniProtKB: Q12809#VAR_008937
dbSNP: rs199473529
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 23, 2014 RCV000182036.1
Uncertain significance 1 criteria provided, single submitter Apr 25, 2018 RCV000678951.1
Help
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
1316 1379

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 23, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234339.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Phe640Leu (TTC>CTC): c.1918 T>C in exon 7 of the KCNH2 gene (NM_000238.2). The F640L mutation in the KCNH2 gene has been reported in association with ... (more)
Uncertain significance
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 2
Allele origin: unknown
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
Accession: SCV000805166.1
Submitted: (Jul 02, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 08, 2020