Table 1.
Selection of MYOM1 and MYOM2 variants: Selection of published variants identified in patients with hypertrophic (HCM), dilated (DCM) or restrictive (RCM) cardiomyopathy, embryonic lethality (EL), sudden unexplained death in young (SUDY), sudden cardiac death (SCD), arthrogryposis (Arthr) and Tetralogy of Fallot (TOF)
| Gene | GRCh37/hg19 | HGVSc | HGVSp | Zygosity | Mutation taster | Varsome | HGMD disease mutation | CADD | GnomAD v2.1.1 | MAF | Associated disease | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYOM1 | 18-3215068-C-G | c.154G > C | p.A52P | Htz | Polym | VUS | CM188378 | 22.2 | SUDY | [76] | ||
| MYOM1 | 18-3155074-T-G | c.1514A > C | p.E505A | Htz | DC | VUS | CM1715431 | 24.7 | 3/277564 | 0.00001081 | HCM | [70] |
| MYOM1 | 18-3151880-C-T | c.1655G > A | p.G552D | Htz | DC | VUS | CM1620054 | 27.4 | HCM | [70] | ||
| MYOM1 | 18-3135667-C-T | c.2087G > A | p.R696H | Htz | DC | VUS | CM1620045 | 28.8 | 57/280526 | 0.0002032 | HCM | [70] |
| MYOM1 | 18-3135622-C-T | c.2132G > A | p.R711H | Htz | DC | VUS | CM168783 | 32.0 | 22/280536 | 0.00007842 | HCM | [77] |
| MYOM1 | 18-3135623-G-A | c.2131C > T | p.R711C | Htz | DC | VUS | CM168778 | 29.4 | 9/249116 | 0.00003613 | HCM | [77] |
| MYOM1 | 18-3129517-C-A | c.2507G > T | p.G836V | Htz | DC | LB | CM173090 | 33.0 | 9/242760 | 0.00003707 | HCM | [71] |
| MYOM1 | 18-3085111-C-T | c.4271G > A | p.G1424E | Htz | DC | VUS | CM1611742 | 32.0 | 10/270868 | 0.00003692 | RCM | [78] |
| MYOM1 | 18-3083803-C-T | c.4468G > A | p.V1490I | Htz | DC | VUS,B | CM110808 | 23.2 | 6/188284 | 0.00003187 | HCM | [65] |
| MYOM1 | 18-3067331-C-T | c.4987G > A | p.V1663M | Hmz | DC | VUS, LP | CM155525 | 28.7 | 2/249186 | 0.000004013 | EL | [62] |
| MYOM2 | 8-2007334-C-G | c.621C > G | p.S207R | Hmz | DC | LB | 22.8 | 16/282774 | 0.00005658 | Arthr | [63] | |
| MYOM2 | 8-2020440-T-C | c.809T > C | p.M270T | Htz | Polym | LB | 10.9 | HCM | [48] | |||
| MYOM2 | 8-2026950-C-G | c.1398C > G | p.S466R | Htz | DC | VUS | 23.4 | 157/282714 | 0.0005553 | HCM | [48] | |
| MYOM2 | 8-2041912-G-A | c.2119G > A | p.A707T | Htz | DC | LB | CM147958 | 22.4 | 25/282664 | 0.00008844 | TOF | [46] |
| MYOM2 | 8-2046750-A-G | c.2377A > G | p.I793V | Hmz | Polym | VUS | 1.04 | HCM | [48] | |||
| MYOM2 | 8-2054058-G-A | c.2761G > A | p.D921N | Htz | DC | VUS | CM1515391 | 24.6 | 26/282488 | 0.00009204 | SCD | [72] |
| MYOM2 | 8-2054094-C-T | c.2797C > T | p.Q933ter | Hmz | DC | VUS | 47.0 | 26/251264 | 0.00010347 | EL | [63] | |
| MYOM2 | 8-2063806-C-T | c.3235C > T | p.R1079ter | Htz | DC | VUS | 40.0 | 7/251336 | 0.00002785 | HCM | [48] | |
| MYOM2 | 8-2088749-A-G | c.3904A > G | p.T1302A | Htz | DC | LB | CM147960 | 16.3 | 93/282810 | 0.0003288 | TOF, DCM | (46) |
Variants homozygous in GnomAD large populations were not introduced
Htz heterozygous, Hmz homozygous, DC disease causing, VUS variant of unknown significance, LB,B likely benign, benign, MAF minor allele frequency from total exome and genome from GnomAD v2.1.1