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NM_172057.2(KCNH2):c.1872del (p.Gly625fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Feb 10, 2017
Accession:
VCV000418247.2
Variation ID:
418247
Description:
1bp deletion
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NM_172057.2(KCNH2):c.1872del (p.Gly625fs)

Allele ID
407052
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150947679 (GRCh38) GRCh38 UCSC
7: 150644767 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150644772del
NC_000007.14:g.150947684del
NM_000238.3:c.2892del NP_000229.1:p.Gly965fs frameshift
... more HGVS
Protein change
G965fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16618400
dbSNP: rs794728462
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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 Feb 10, 2017 RCV000482977.1
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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
Pathogenic
(Feb 10, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565059.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.2892delC pathogenic variant in the KCNH2 gene has previously been reported in association with LQTS (Kapplinger et al., 2009). This variant causes a shift ... (more)

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