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. Author manuscript; available in PMC: 2014 Aug 1.
Published in final edited form as: Circ Cardiovasc Genet. 2013 Jul 16;6(4):10.1161/CIRCGENETICS.113.000039. doi: 10.1161/CIRCGENETICS.113.000039

Table 3.

Summary of ClinSeq® participants with arrhythmia-associated pathogenic class 5 variants

Gene cDNA reference, predicted protein/splice alteration Path score ID
Age
Sex
Race
Ethnicity
QTc (mS) ECHO septum (mm) nl 6–11 ECHO LVEF (%)nl 55–74 ECG/ECHO comments HTN Family history
KCNE1 NM_000219.3
c.292C>T
p.Arg98Trp
5 155279 62
Female
Cauc
NH
438 10 65 Nl/Nl No Sister palpitations
KCNH2 NM_000238.3
c.934C>T
p.Arg312Cys
5 173996
55
Male
Cauc
NH
402 10 60 SB56, 1AVB/Impaired LV diastole, moderate MR, mild AR No Proband palpitations, 2 paternal aunts & 1 uncle d. 70’s unknown cause

1AVB, first degree AV block; Cauc, Caucasian; d., died; LV, left ventricle; LVEF, left ventricular ejection fraction; NH, Non-Hispanic; Nl, normal; Path, pathogenicity; SB, sinus bradycardia (followed by the heart rate).