GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNH2 R28Ginsufficiently evaluated noneunknown
KCNH2 T65Pinsufficiently evaluated pathogenicunknown

(87 web hits)

KCNH2 R100Ginsufficiently evaluated pathogenicunknown

(3 web hits)

KCNH2 G184Dinsufficiently evaluated not reviewedunknown CGI sample GS000006909
KCNH2 A188Tinsufficiently evaluated noneunknown
KCNH2 V193Ginsufficiently evaluated not reviewedunknown
KCNH2 V279Linsufficiently evaluated not reviewedunknown
KCNH2 N470Dinsufficiently evaluated pathogenicunknown

(73 web hits)

KCNH2 A490Tinsufficiently evaluated pathogenicunknown

(32 web hits)

KCNH2 V533Ginsufficiently evaluated not reviewed, f=0.002unknown
KCNH2 A558Pinsufficiently evaluated pathogenicunknown

(20 web hits)

KCNH2 A561Vinsufficiently evaluated pathogenicunknown

Variation in the potassium channel KCNH2 (aka HERG) is associated with long QT syndrome, an inherited cardiac arrhythmia. This mutation results in substitution of valine for a highly conserved alanine at codon 561 (A561V), altering the fifth membrane-spanning domain (S5) of the KCNH2 protein (http://www.ncbi.nlm.nih.gov/pubmed/7889573).

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death (http://www.ncbi.nlm.nih.gov/pubmed/10220144).

This pathogenic variant is one of the known pathogenic alleles that the ACMG recommends reporting to patients as an incidental finding.

http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf

(79 web hits)

KCNH2 G572Rinsufficiently evaluated pathogenicunknown

(70 web hits)

KCNH2 R582Cinsufficiently evaluated pathogenicunknown

(18 web hits)

KCNH2 N588Kinsufficiently evaluated pathogenicunknown

(251 web hits)

KCNH2 I593Rinsufficiently evaluated pathogenicunknown

(15 web hits)

KCNH2 G628Sinsufficiently evaluated pathogenicunknown

(159 web hits)

KCNH2 H739Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
KCNH2 C740Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
KCNH2 R752Qinsufficiently evaluated pathogenic, f=0.000unknown

(6 web hits)

KCNH2 D767Ginsufficiently evaluated not reviewedunknown
KCNH2 R784Winsufficiently evaluated pathogenicunknown

(32 web hits)

KCNH2 S818Linsufficiently evaluated pathogenicunknown

(37 web hits)

KCNH2 V822Minsufficiently evaluated pathogenicunknown

(37 web hits)

KCNH2 N861Iinsufficiently evaluated pathogenicunknown

(23 web hits)

KCNH2 T895Minsufficiently evaluated not reviewed, f=0.010unknown var-GS18947-1100-36-ASM
KCNH2 K897Tinsufficiently evaluated pharmacogenetic, f=0.169unknown

(483 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
KCNH2 A913Vpathogenicdominant

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.

KCNH2 R913Vinsufficiently evaluated pathogenicunknown
KCNH2 R948Cinsufficiently evaluated pathogenicunknown

(3 web hits)

KCNH2 W1001Xinsufficiently evaluated pathogenicunknown

(9 web hits)

KCNH2 R1007Ginsufficiently evaluated not reviewed, f=0.010unknown
KCNH2 R1047Linsufficiently evaluated not reviewedother

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

CGI sample GS01669-DNA_B05 from PGP sample 86486261
Page: 1 2 3 4
Total results: 33

Gene search

"GENE" or "GENE A123C":

Log in