Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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The KCNH2-R1047L allele is a rare variant found among controls not affected by long Q-T syndrome.
PolyPhen-2 score is 0.039 (sensitivity: 0.94; specificity: 0.83), benign.
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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.
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).
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr7:150644428