Table 4.
Novel rare variants (AF < 0.001) detected in our cohort; variants classified by VarSome as LP/P are represented in bold letters.
| Gene | HGVSc | HGVSp | Molecular Consequence | In Silico Predictions | VarSome Class | No. Cases |
|---|---|---|---|---|---|---|
| ACTA1 | c.848G>A | p.Ser283Asn | Missense variant |
S: D
P: N PP: B MT: DC |
LP | 1 |
| ACTN2 | c.411C>A | p.Ile137= | Synonymous variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| ACTN2 | c.973G>T | p.Asp325Tyr | Missense variant | S: D P: D PP: PrD MT: DC |
VUS | 1 |
| ANKRD1 | c.566C>T | p.Ala189Val | Missense variant | S: D P: D PP: PoD MT: DC |
VUS | 1 |
| CALR3 | c.877G>T | p.Glu293Ter | Stop gained |
S: D
P: NA PP: NA MT: DC |
P | 1 |
| DES | c.462C>A | p.Leu154= | Synonymous variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| DES | c.1023T>G | p.Thr341= | Synonymous variant |
S: T
P: N PP: NA MT: DC |
LP | 1 |
| DES | c.1095C>A | p.Asp365Glu | Missense variant |
S: T
P: N PP: B MT: DC |
LP | 1 |
| DES | c.1104G>T | p.Ala368= | Synonymous variant | S: T P: N PP: NA MT: Pol |
LB | 1 |
| GAA | c.352G>A | p.Gln118Lys | Missense variant | S: T P: N PP: B MT: Pol |
VUS | 1 |
| JPH2 | c.1683G>T | p.Ala561= | Synonymous variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| JPH2 | c.1039G>T | p.Val347Phe | Missense variant | S: D P: D PP: PrD MT: DC |
LB | 1 |
| KLF10 | c.1060G>T | p.Ala354Ser | Missense variant | S: T P: N PP: B MT: Pol |
VUS | 1 |
| LDB3 | c.563G>A | p.Gly188Asp | Missense variant | S: T P: N PP: B MT: Pol |
LB | 1 |
| LDB3 | c.1103C>A | p.Pro368His | Missense variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| LDB3 | c.1155C>A | p.Thr385= | Synonymous variant | S: T P: N PP: NA MT: Pol |
LB | 1 |
| LDB3 | c.1838C>A | p.Pro613Gln | Missense variant | S: D P: D PP: NA MT: DC |
VUS | 1 |
| MYBPC3 | c.2813C>T | p.Ala938Val | Missense variant |
S: D
P: N PP: PrD MT: DC |
LP | 1 |
| MYBPC3 | c.1965A>G | p.Ile655Met | Missense variant | S: T P: N PP: B MT: Pol |
VUS | 2 |
| MYBPC3 | c.1957_1962delGGCCGC | p.Gly653_Arg654del | In-frame deletion |
S: NA
P: D PP: NA MT: Pol |
LP | 2 |
| MYBPC3 | c.1252A>C | p.Lys418Gln | Missense variant | S: T P: N PP: B MT: DC |
VUS | 1 |
| MYBPC3 | c.1251C>T | p.Ala417= | Synonymous variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| MYBPC3 | c.1247_1248insCCAG | p.Ala417GlnfsTer29 | Frameshift variant |
S: NA
P: NA PP: NA MT: DC |
P | 1 |
| MYBPC3 | c.996G>T | p.Glu332Asp | Missense variant | S: T P: N PP: B MT: DC |
VUS | 1 |
| MYH6 | c.2571G>T | p.Glu857Asp | Missense variant | S: T P: N PP: PrD MT: DC |
LB | 1 |
| MYH6 | c.2346G>T | p.Arg782Ser | Missense variant | S: D P: D PP: B MT: DC |
VUS | 1 |
| MYLK2 | c.1431C>A | p.Ser477Arg | Missense variant | S: D P: D PP: PrD MT: DC |
VUS | 1 |
| MYOZ2 | c.236C>A | p.Ala79Glu | Missense variant | S: T P: N PP: PoD MT: DC |
LB | 1 |
| NEXN | c.44C>A | p.Ser15Tyr | Missense variant | S: D P: N PP: PoD MT: DC |
VUS | 1 |
| PRKAG2 | c.1381C>T | p.Pro461Ser | Missense variant | S: D P: D PP: PrD MT: DC |
VUS | 1 |
| SOS1 | c.3434A>G | p.Asp1145Gly | Missense variant | S: T P: N PP: B MT: DC |
VUS | 1 |
| TCAP | c.68C>A | p.Ala23Glu | Missense variant | S: D P: D PP: PoD MT: DC |
VUS | 1 |
| TRIM63 | c.697C>A | p.Gln233Lys | Missense variant | S: T P: N PP: B MT: Pol |
LB | 1 |
| TTN | c.44530G>T | p.Ala14844Ser | Missense variant | S: D P: N PP: PrD MT: DC |
VUS | 1 |
| TTN | c.30392G>T | p.Cys10131Phe | Missense variant | S: T P: D PP: B MT: DC |
VUS | 1 |
| TTN | c.26928G>T | p.Leu8976= | Synonymous variant | S: T P: N PP: NA MT: DC |
LB | 1 |
| TTN | c.25185G>T | p.Lys8395Asn | Missense variant | S: D P: D PP: PrD MT: DC |
LB | 1 |
| TTN | c.22816+1G>T | Splice donor variant |
S: NA
P: NA PP: NA MT: DC |
P | 1 | |
| TTN | c.16783G>T | p.Val5595Leu | Missense variant | S: T P: N PP: B MT: Pol |
LB | 1 |
| TTN | c.11927A>G | p.Lys3976Arg | Missense variant | S: T P: N PP: B MT: Pol |
LB | 1 |
| TTN | c.11338G>T | p.Glu3780Ter | Stop gained |
S: NA
P: NA PP: NA MT: DC |
P | 1 |
| TTN | c.2518G>T | p.Ala840Ser | Missense variant | S: D P: N PP: B MT: DC |
VUS | 1 |
| TTN | c.49G>T | p.Val17Leu | Missense variant | S: T P: N PP: B MT: DC |
VUS | 1 |
AF allele frequency; B benign; D damaging (SIFT)/ deleterious (Provean); DC disease causing; LB likely benign; LP likely pathogenic; N neutral; NA not available; P pathogenic; PoD possibly damaging; Pol polymorphism; PrD probably damaging; T tolerated; VUS variant of uncertain significance.