KCNH2 R1047L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

KCNH2 R1047L

(KCNH2 Arg1047Leu)


Short summary

The KCNH2-R1047L allele is a rare variant found among controls not affected by long Q-T syndrome.

Variant evidence
Computational 1

PolyPhen-2 score is 0.039 (sensitivity: 0.94; specificity: 0.83), benign.

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

other

Summary of published research, and additional commentary

 

show discussion

Discussion

Participant PGP89 (heterozygous for KCNH2-R1047L) is a 58 year old male with normal cardiac function assessed via EKG and no history of cardiac episodes.

Allele frequency

  • None available.

Publications
 

Larsen LA, Andersen PS, Kanters J, Svendsen IH, Jacobsen JR, Vuust J, Wettrell G, Tranebjaerg L, Bathen J, Christiansen M. Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 Aug;47(8):1390-5. PubMed PMID: 11468227.

The authors identify a number of novel alleles of KCNH2 associated with long Q-T syndrome. A rare allelic variant of KCNH2 encoding an Arg1047Leu amino acid variant was found in 3 of 80 wild-type alleles (Table 3).

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr7:150644428

 

show discussion

Discussion

Participant PGP89 (heterozygous for KCNH2-R1047L) is a 58 year old male with normal cardiac function assessed via EKG and no history of cardiac episodes.

Other external references
 

    dbSNP
  • rs36210421
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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