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).