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NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 17, 2020)
Last evaluated:
Feb 24, 2020
Accession:
VCV000200646.3
Variation ID:
200646
Description:
3bp microsatellite
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NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)

Allele ID
197245
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951478-150951480 (GRCh38) GRCh38 UCSC
7: 150648566-150648568 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000238.3:c.1913_1915delAGA
NM_000238.4:c.1913_1915del MANE Select
LRG_288:g.31444AGA[1]
... more HGVS
Protein change
K298del, K638del
Other names
-
Canonical SPDI
NC_000007.14:150951477:TCTTCT:TCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA005984
dbSNP: rs794728442
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 3, 2017 RCV000181980.4
Likely pathogenic 1 criteria provided, single submitter Sep 11, 2016 RCV000456814.1
Likely pathogenic 1 criteria provided, single submitter Feb 24, 2020 RCV001248785.1
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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
2026 2097

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234283.8
Submitted: (Jul 13, 2017)
Evidence details
Comment:
The c.1913_1915delAGA variant in the KCNH2 gene has been previously reported in association with LQTS (Splawski et al., 2000; Kapplinger et al., 2009), and was … (more)
Likely pathogenic
(Sep 11, 2016)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000543450.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 3 nucleotides from exon 7 of the KCNH2 mRNA (c.1913_1915delAGA). This leads to the deletion of 1 amino acid residue in … (more)
Likely pathogenic
(Feb 24, 2020)
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: SCV001422295.1
Submitted: (Apr 17, 2020)
Evidence details

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

Text-mined citations for rs794728442...

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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 Oct 08, 2021