Seven probands with very rare variants identified (<0.02% in NHLBI and UCL-exomes cohorts)
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 4 years/female | Sleep (normal heart)* | SCN5A LQT6,7 | R1623Q | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All R1623Q negative |
| 6 years/male | Sleep (RV fat infiltration with no fibrosis)* | SCN5A LQT8–10 | V411M | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All V411M negative |
| 18 years/female | Daily activities (normal heart)* | TTN DCM/HCM | E23106X | Undetermined | 0 | 0.00083 | Family declined screening |
| 26 years/female | Phone call (normal heart)* | RyR2 CPVT11 | N1551S | 0 | 0 | 0.034 | Parents and siblings no CPVT phenotype but mother and sister positive N1551S and 4 sudden deaths on maternal side |
| 32 years/male | Sleep (normal heart)* | GJA5 Familial AF | Y197X | 0 | 0 | 0 | Family declined screening |
| 39 years/male | Daily activities (fat infiltration both RV and LV, but no fibrosis)* | MYOT LGMD | Q453X | 0 | 0 | 0.00165 | Family declined screening |
| 44 years/male | Daily activities (mild fibrosis with no disarray)* | DSC2 ARVC12 | S868F | 0 | 0.0077 | 0.0058 | Young child normal ECG and echo |
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 4 years/female | Sleep (normal heart)* | SCN5A LQT6,7 | R1623Q | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All R1623Q negative |
| 6 years/male | Sleep (RV fat infiltration with no fibrosis)* | SCN5A LQT8–10 | V411M | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All V411M negative |
| 18 years/female | Daily activities (normal heart)* | TTN DCM/HCM | E23106X | Undetermined | 0 | 0.00083 | Family declined screening |
| 26 years/female | Phone call (normal heart)* | RyR2 CPVT11 | N1551S | 0 | 0 | 0.034 | Parents and siblings no CPVT phenotype but mother and sister positive N1551S and 4 sudden deaths on maternal side |
| 32 years/male | Sleep (normal heart)* | GJA5 Familial AF | Y197X | 0 | 0 | 0 | Family declined screening |
| 39 years/male | Daily activities (fat infiltration both RV and LV, but no fibrosis)* | MYOT LGMD | Q453X | 0 | 0 | 0.00165 | Family declined screening |
| 44 years/male | Daily activities (mild fibrosis with no disarray)* | DSC2 ARVC12 | S868F | 0 | 0.0077 | 0.0058 | Young child normal ECG and echo |
All variant frequencies are listed as percentages. Expert cardiac pathology review denoted with an asterisk.
Seven probands with very rare variants identified (<0.02% in NHLBI and UCL-exomes cohorts)
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 4 years/female | Sleep (normal heart)* | SCN5A LQT6,7 | R1623Q | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All R1623Q negative |
| 6 years/male | Sleep (RV fat infiltration with no fibrosis)* | SCN5A LQT8–10 | V411M | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All V411M negative |
| 18 years/female | Daily activities (normal heart)* | TTN DCM/HCM | E23106X | Undetermined | 0 | 0.00083 | Family declined screening |
| 26 years/female | Phone call (normal heart)* | RyR2 CPVT11 | N1551S | 0 | 0 | 0.034 | Parents and siblings no CPVT phenotype but mother and sister positive N1551S and 4 sudden deaths on maternal side |
| 32 years/male | Sleep (normal heart)* | GJA5 Familial AF | Y197X | 0 | 0 | 0 | Family declined screening |
| 39 years/male | Daily activities (fat infiltration both RV and LV, but no fibrosis)* | MYOT LGMD | Q453X | 0 | 0 | 0.00165 | Family declined screening |
| 44 years/male | Daily activities (mild fibrosis with no disarray)* | DSC2 ARVC12 | S868F | 0 | 0.0077 | 0.0058 | Young child normal ECG and echo |
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 4 years/female | Sleep (normal heart)* | SCN5A LQT6,7 | R1623Q | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All R1623Q negative |
| 6 years/male | Sleep (RV fat infiltration with no fibrosis)* | SCN5A LQT8–10 | V411M | 0 | 0 | 0 | Parents and siblings no LQT/BrS phenotype. All V411M negative |
| 18 years/female | Daily activities (normal heart)* | TTN DCM/HCM | E23106X | Undetermined | 0 | 0.00083 | Family declined screening |
| 26 years/female | Phone call (normal heart)* | RyR2 CPVT11 | N1551S | 0 | 0 | 0.034 | Parents and siblings no CPVT phenotype but mother and sister positive N1551S and 4 sudden deaths on maternal side |
| 32 years/male | Sleep (normal heart)* | GJA5 Familial AF | Y197X | 0 | 0 | 0 | Family declined screening |
| 39 years/male | Daily activities (fat infiltration both RV and LV, but no fibrosis)* | MYOT LGMD | Q453X | 0 | 0 | 0.00165 | Family declined screening |
| 44 years/male | Daily activities (mild fibrosis with no disarray)* | DSC2 ARVC12 | S868F | 0 | 0.0077 | 0.0058 | Young child normal ECG and echo |
All variant frequencies are listed as percentages. Expert cardiac pathology review denoted with an asterisk.
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