KCNH2 A913V - GET-Evidence

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Currentness:

KCNH2 A913V

(KCNH2 Ala913Val)


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Short summary

Reported by ClinVar to cause Long QT Syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/14443/). In ClinVar, it is reported as “likely pathogenic” or “pathogenic” by submissions from Blueprint Genetics, Invitae, and OMIM, however it’s listed as “uncertain significance” by GeneDx.

These resources reference a couple of papers, including Kapplinger et al. 2009 (https://www.ncbi.nlm.nih.gov/pubmed/19716085), which found this variant in 5 out of 2500 patients tested.

Variant evidence
Computational -
Functional
Case/Control 4
Familial -
 
Clinical importance
Severity 4
Treatability 3
Penetrance 4
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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