Table 4. Clinical and variant information for VCL pLOF probands with other cardiac phenotypes.
All VCL variants are reported in NM_041000.2. Infantile: age at testing ≤ 1 year; Childhood: age at testing >1 year and ≤10 years; Adolescent >10 years and ≤20 years; Adult: age at testing >20 years;
| Proband | Age at Testing | Sex | Clinical Information | VCL pLOF Variant Identified | Allele Frequency in gnomAD (v2.1) | Additional Variant(s) Identified | Classification of Add’l Variant(s) |
|---|---|---|---|---|---|---|---|
| 20 | Adult | M | Bradycardia and complete AV block with family history of DCM | c.2853delT p.Glu952Serfs*4 | Absent | ||
| 21 | Adult | F | HCM | c.1708C>T p.Arg570* | 0.00009 (1/113,694 alleles) in European Population | ||
| 22 | Adult | F | LVNC | c.562C>T p.Arg188* | 0.00003 (3/113,666 alleles) in European Population | ||
| 23 | Adolescent | M | VT, tuberous sclerosis, and rhabdomyoma | c.2387delC p.Pro796Argfs*3 | Absent | ||
| 24 | Adult | M | HCM and CAD | c.2828_2829delCT p.Pro943Argfs*9 | 0.0005 (12/24968 alleles) in African Population | ||
| 25 | Adult | M | Sinus bradycardia and first degree heart block | c.1225C>T p.Arg409* | 0.00003 (1/34,592 alleles) in Latino Population | ||
| 26 | Adult | M | Sinus bradycardia and first degree heart block | c.1713delA p.Ala573Hisfs*8 | 0.0007 (7/10,076 alleles) in Ashkenazi Jewish Population | ||
| 27 | Infantile | M | LVH | c.2828_2829delCT p.Pro943Argfs*9 | 0.0005 (12/24,968 alleles) in African Population | Unspecified* | VUS |
| 28 | Adult | F | CM (unspecified type) | c.1708C>T p.Arg570* | 0.00009 (1/113,694 alleles) in European Population | Unspecified* | VUS |
| 29 | Infantile | M | Abnormal Echo and family history of DCM | c.3163C>T p.Arg1055* | Absent | Unspecified* | VUS |
| 30 | Adolescent | M | Congenital CM (unspecified type) | c.1744−1G>T | Absent | ||
| 31 | Adult | M | CM (unspecified type) and heart failure | c.3259−1G>T | Absent | Unspecified* | VUS |
| 32 | Adolescent | M | LVNC after pericarditis | c.1225C>T p.Arg409* | 0.00300 (1/34,592 alleles) in Latino Population | DSG2 c.2434G>A p.Gly812Ser | VUS |
| ILK c.680G>A p.Trp227* | VUS |
*
Detailed information for additional variants identified was not available for all probands due to IRB restrictions.
M: male; F: female; pLOF: putative loss of function; AV: atrioventricular; DCM: dilated cardiomyopathy; HCM: hypertrophic cardiomyopathy; LVNC: left ventricular noncompaction cardiomyopathy; VT: ventricular tachycardia; CAD: coronary artery disease; LVH: left ventricular hypertrophy; CM: cardiomyopathy.