Table 3 Inherited coding variants in trios in known disease-risk genes
From: De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies
Family ID | Disease | HPO terms | Genomic position (GRCh38) | Gene | Exomiser rank | Exomiser score | Consequence | cDNA | Variation | rsID | Segregation | ClinVar |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fam919 | DCM | Microcephaly; congestive heart failure; endocardial fibroelastosis; hydrops fetalis; polymicrogyria; cortical dysplasia; and pedal oedema | chr10:78,009,659 G > A | POLR3A | 1 | 0.6862 | Missense variant | c.1787C > T | p.Thr596Met | rs756953635 | Recessive | – |
chr2:178,549,450 G > A | TTN | 2 | 0.3656 | Missense variant | c.92176C > T | p.Pro30726Ser | rs72648247 | Compound heterozygous | US | |||
Fam599 | HCM | Abnormality of the tongue; hypertelorism; wide nasal bridge; preaxial hand polydactyly; intellectual disability; congestive heart failure; neonatal onset; prominent epicanthal folds; abnormal social behaviour; and mild microcephaly | chr11:47,342,698 G > A | MYBPC3 | – | – | Missense variant | c.1504C > T | p.Arg502Trp | rs375882485 | Dominant | P |
Fam099 | HCM | – | chrM:6120 A > G | MT-CO1 | – | – | Missense variant | c.217A > G | p.Ile73Val | rs878853023 | Mitochondrial | US |
Fam478 | HCM | Abnormality of weight; spare scalp hair; frontal bossing; congestive heart failure; dry skin; and deeply set eye | chrM:14,279 G > A | MT-ND6 | – | – | Missense variant | c.395C > T | p.Ser132Leu | rs869025187 | Mitochondrial | P |
Fam180 | HCM | – | chr14:23,429,094 G > A | MYH7 | 1 | 0.9975 | Missense variant | c.1268C > T | p.Ala423Val | rs1177694963 | Dominant | – |
Fam484 | LVNC | Intellectual disability; joint hypermobility; Wolff–Parkinson–white syndrome; and palpitations | chr7:93,103,844 A > T | SAMD9 | – | – | Missense variant | c.2254 T > A | p.Trp752Arg | rs148339415 | Dominant | – |
Fam992 | ARVC | – | chr18:31,524,723 AAATC > A | DSG2 | – | – | Frameshift variant | c.852_855del | p.Asn284LysfsTer4 | rs1165139589 | Dominant | – |
chr18:31,531,006 TGAA > T | DSG2 | – | – | Inframe deletion | c.1038_1040del | p.Lys346del | rs727502987 | Dominant | – | |||
Fam539 | HCM | Skeletal myopathy; increased nuchal translucency | chr21:45,999,190 A > C | COL6A1 | – | – | Missense variant | c.1712A > C | p.Lys571Thr | rs751040647 | Dominant | US |
chr22:20,993,712 G > A | LZTR1 | 3 | 0.1816 | Stop gained | c.1311G > A | p.Trp437Ter | rs770933647 | Dominant | P | |||
chr2:178,725,987 T > A | TTN | – | – | Missense variant | c.20335A > T | p.Ser6779Cys | rs149470241 | Compound heterozygous | US | |||
Fam957 | DCM | Partial anomalous pulmonary venous return; dyspnoea; myocardial fibrosis; and oligospermia | chr15:34,793,327 G > C | ACTC1 | 1 | 0.8597 | Missense variant | c.372C > G | p.Ile124Met | rs397517061 | Dominant | US |
Fam411 | HCM | Palpitations | chr11:47,352,622 C > T | MYBPC3 | 2 | 0.9375 | Splice donor variant | c.25 + 1G > A | – | rs113709679 | Dominant | P |