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NM_172056.2(KCNH2):c.1691T>A (p.Leu564Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 9, 2019
Accession:
VCV000572344.4
Variation ID:
572344
Description:
single nucleotide variant
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NM_172056.2(KCNH2):c.1691T>A (p.Leu564Gln)

Allele ID
561404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150648790 (GRCh37) GRCh37 UCSC
7: 150951702 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_288:g.31225T>A
LRG_288t2:c.1691T>A LRG_288p2:p.Leu564Gln
LRG_288t1:c.1691T>A LRG_288p1:p.Leu564Gln
... more HGVS
Protein change
L564Q, L224Q
Other names
-
Canonical SPDI
NC_000007.14:150951701:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs199472924
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 Jul 9, 2019 RCV000693704.4
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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
(Jul 09, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000821585.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with glutamine at codon 564 of the KCNH2 protein (p.Leu564Gln). The leucine residue is highly conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family. St-Pierre J The Canadian journal of cardiology 2000 PMID: 10744792

Text-mined citations for rs199472924...

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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