Table 2.
Predisposing analysis of genetic variants suspected to arrhythmia and cardiomyopathies for II: 1
| Chr | Gene | Transcript | Zygosity | RS-ID | 1000G | Local Fre | GnomAD | SIFT | PolyPhen | MetaSVM | Clinvar | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12 | CACNA1C | NM_001129827, c.5753C>T, p.T1918M | Het | rs201777030 | 0 | A | 0.0011 | 0.17 (T) | 0.60 (P) | T | B | US |
| chr9 | COL5A1 | NM_000093, c.61C>T, p.P21S | Het | rs548525119 | 0 | A | 0.0011 | 0.43 (T) | 0.00 (B) | T | B | B |
| chr18 | DSC2 | NM_004949, c.1559T>C, p. I520T | Het | rs561310777 | 0 | A | 0.0002 | 0.00 (D) | 0.47 (P) | T | B | US |
| chr18 | DSC2 | NM_004949, c.140_147delAACTTGTT, p. K47Rfs*2 | Het | – | 0 | A | – | – | – | – | – | LP |
| chr7 | ELN | NM_000501, c.742A > T, p. T248S | Het | – | 0 | A | 0.000004064 | 0.35 (T) | 0.97 (P) | T | – | US |
| chr19 | GDF1 | NM_001492, c.470_471insGGC | Het | rs571387097 | 0 | A | 0.038 | – | – | – | B | LB |
| chr10 | HTRA1 | NM_002775, c.59C > T, p.A20V | Het | rs369149111 | 0 | A | 0.0207 | 0.53 (T) | 0.00 (B) | T | B | B |
| chr15 | MEF2A | NM_005587, c.1234_1236delCAG | Het | rs373652230 | 0 | A | 0.1518 | – | – | – | B | B |
| chr6 | TSPYL1 | NM_003309, c.528_529insGTG | Hom | rs397735194 | 0 | A | – | – | – | – | – | B |
| chr2 | TTN | NM_001267550, c.36655T>G, p. L12219V | Hom | rs139508281 | 0 | A | 0.0954 | – | 0.00 (U) | T | B | B |
Chr: chromosome. Fre: frequency. Het: heterozygosis. Hom: homozygosis. GnomAD: frequency of existing variant in gnomAD exomes combined population. Local Fre: frequency information about this SNP in sequencing samples of over 200 normal people collected locally. Local frequency: 0–0.01 = A; 0.01–0.05 is B (including 0.01 and 0.05); 0.05–1 is C. P: possibly damaging; T: tolerated; U: unknown. 1000G: 1000 Genomes Project databases (2014version). B: benign. D: deleterious. US: uncertain significance. LB: likely benign. LP: likely pathogenic. –, no report