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NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 16, 2020
Accession:
VCV001066309.1
Variation ID:
1066309
Description:
single nucleotide variant
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NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)

Allele ID
1055669
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951565 (GRCh38) GRCh38 UCSC
7: 150648653 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_288t2:c.1828A>G LRG_288p2:p.Lys610Glu
NC_000007.13:g.150648653T>C
NC_000007.14:g.150951565T>C
... more HGVS
Protein change
K270E, K610E
Other names
-
Canonical SPDI
NC_000007.14:150951564:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 May 16, 2020 RCV001377273.1
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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
2027 2098

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 16, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001574560.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with glutamic acid at codon 610 of the KCNH2 protein (p.Lys610Glu). The lysine residue is moderately conserved and there is … (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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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 Oct 08, 2021