Table 2.

Summary of ClinSeq^® participants with cardiomyopathy-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
MYBPC3	NM_000256.3 c.1468G>A p.Gly490Arg	5	182262 56 Male Cauc NH	388	12	65	Nl/mild asymmetric basal septal, hypertrophy aortic root mildly dilated	No	Proband palpitations, sister cardiomyopathy, paternal cousin d. 68y CHF, paternal uncle d. 2y
MYBPC3	NM_000256.3 c.1484G>A p.Arg495Gln	5	135629 62 Male Cauc NH	417	11	57	SB57, LAFB/aortic root, AA, RA, RV are mildly dilated, nl RV fxn, no pulmonary HTN	No	Proband A-fib, mild concentric LVH, sister A-fib x1y, mother A-fib
MYH7	NM_000257.2 c.732+1G>A IVS8+1G>A	5	120682 62 Female Cauc NH	431	8	60	1AVB/prominent trabeculations LV apex, nl LV fxn, mild AR, no pulmonary HTN	Yes	Proband LVNC on cardiac MRI, mild LAE, daughter resting heart rate in 90’s
PLN	NM_002667.3 c.116T>G p.Leu39X	5	114451 57 Female Cauc NH	398	6	60	Nl/mild-moderate AR	No	Brother CAD & stent 61y, father MI 61y, defibrillator & pacemaker 70’s

1AVB, first degree AV block; AA, ascending aorta; A-fib, atrial fibrillation; AR, aortic regurgitation; CAD, coronary artery disease; Cauc, Caucasian; CHF, congestive heart failure; d., died; fxn, function; HTN, hypertension; LAFB, left anterior fascicular block; LV, left ventricle; LVH, left ventricular hypertrophy; LVEF, left ventricular ejection fraction; LVNC, left ventricular noncompaction; MI, myocardial infarction; MRI, magnetic resonance imaging; NH, Non-Hispanic; Nl, normal; Path, pathogenicity; RA, right atrium; RV, right ventricle; SB, sinus bradycardia (followed by the heart rate).