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Table 1 Variations identified in the patients with congenital myopathies

From: Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Case Pathology Gene Inheritance Variations Protein Origin Pathogenicity ACMG criterion PMID
1 CCD RYR1 AD c.14596A > G p.(Lys4866Gln) De novo Pathogenic PS2 + PM1 + PM2 + PP3 + PP4 25,331,388
2 CCD RYR1 AD c.7111G > A p.(Glu2371Lys) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP3 + PP4 + PP5 29,293,505
3# CCD RYR1 AD c.14678 G > A p.(Arg4893Gln) Paternal LP PM1 + PM2 + PP3 + PP4 + PP5 12,565,913
4# CCD RYR1 AD c.14741G > C p.(Arg4914Thr) Paternal Pathogenic PS1 + PM1 + PM2 + PP3 + PP4 + PP5 12,565,931
5 MmD TTN AR c.85818 T > A p.(Tyr28606Ter) Paternal Pathogenic PVS1 + PS1 + PM2 + PP3 + PP4 + PP5  
     c.102798_102800del p.(Asn34266del) Maternal LP PM2 + PM3 + PM4 + PP4  
6 MmD RYR1 AR c.3880G > T p.(Val1294Phe) Maternal LP PM1 + PM2 + PP3 + PP4 + PP5  
     c.14473C > T p.(Arg4825Cys) Paternal Pathogenic PS1 + PM1 + PM2 + PP3 + PP4 + PP5 20,301,565
7# MmD RYR1 AR c.658C > T p.(Arg220Cys) Paternal LP PM1 + PM2 + PP1 + PP3 + PP4 + PP5  
     c.4715 T > C p.(Met1572Thr) Maternal LP PM1 + PM2 + PP1 + PP3 + PP4 + PP5  
8 MmD RYR1 AR c.4454G > A p.(Ser1485Asn) Paternal LP PM1 + PM2 + PP3 + PP4 + PP5  
     c.3494G > A p.(Gly1165Asp) Maternal Pathogenic PS1 + PM1 + PM2 + PP3 + PP4 21,911,697
9 NM TNNT1 AR c.1A > G p.? Maternal Pathogenic PVS1 + PM2 + PP4 + PP5  
     c.353delC p. (Thr118Metfs Ter16) Paternal Pathogenic PVS1 + PM2 + PP4  
10 NM NEB AR c.18808C > T p.(Arg6270Ter) Maternal Pathogenic PVS1 + PS1 + PM2 + PP3 + PP4 + PP5 25,205,138
     c.2311-2A > C p.? Paternal Pathogenic  PVS1 + PM2 + PP4 32,222,963
12 CNM TTN AR c.2099_2106dup p.(Ala703LysfsTer3) Maternal Pathogenic PVS1 + PS1 + PM2 + PM3 + PP4  
     c.107377 + 1G > A p.? Paternal Pathogenic PVS1 + PS1 + PM2 + PP4 25,589,632
13 CNM RYR1 AR c.6823G > A p. (Val2275Met) Maternal LP PM1 + PM2 + PP3 + PP4 + PP5  
     c.2044C > G p.(Arg682Gly) Paternal LP PM1 + PM2 + PM5 + PP3 + PP4 + PP5  
14 CNM TTN AR c.95341C > T p.(Arg31781Ter) De novo Pathogenic PVS1 + PS2 + PM2 + PP3 + PP4 25,163,546
     c.32312-1G > A p.? Maternal Pathogenic PVS1 + PS1 + PM2 + PP4  
15 CNM DNM2 AD c.1893 + 1G > A p.? De novo Pathogenic PVS1 + PS1 + PS2 + PM2 + PP4  
16 CNM DNM2 AD c.1856C > T p.(Ser619Leu) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 32,860,008
17 CFTD RYR1 AR c.12536G > A p.(Arg4179His) Maternal Pathogenic PS1 + PM1 + PM2 + PP3 + PP4 21,062,345
     c.1675dup p.(Ile559AsnfsTer11) Paternal Pathogenic PVS1 + PM2 + PS1 + PP4  
18 / RYR1 AR c.3523G > A p.(Glu1175Lys) Maternal LP PM1 + PM2 + PP3 + PP4 25,635,128
     c.7330C > T p.(Gln2444Ter) Paternal Pathogenic PVS1 + PS1 + PM2 + PP4 + PP5  
34 CCD RYR1 AD c.14447A > G p.(Asp4816Gly) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PM5 +PP3 + PP4 + PP5 23,553,484
35 CCD RYR1 AD c.14582G > A p.(Arg4861His) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP3 + PP4 25,521,991
36# NM NEB AR c.3567 + 1G > A p.? Paternal Pathogenic PVS1 + PS1 + PM2 + PP3 + PP4  
     c.6734dupA p. (Thr2246Aspfs Ter8) Maternal Pathogenic PVS1 + PM2 + PP3 + PP4  
37 NM NEB AR c.19944G > A p.? Maternal LP PS1 + PM2 + PP3 + PP4 25,205,138
     c.6029del p. (Ile2010Thrfs Ter14) Paternal Pathogenic PVS1+ PM2 + PP4 32,222,963
38 NM NEB AR c.7818delG p. (Met2606Ilefs Ter13) Paternal Pathogenic PVS1+ PM2 + PP4 32,222,963
     c.24579G > A p.? Maternal LP PS1 + PM2 + PP3 + PP4 + PP5 24,725,366
39 NM ACTA1 AD c.400A > G p.(Met134Val) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 10,508,519
40 NM ACTA1 AD c.515C > G p.(Ala172Gly) De novo Pathogenic PS2 + PM2 + PM5 + PP2 + PP3 + PP4 12,921,789
41 NM ACTA1 AD c.402G > T p.(Met134Ile) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5  
42 NM ACTA1 AD c.109G > T p.(Val37Leu) De novo Pathogenic PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 25,326,635
  1. Note: Reference transcript of different genes: RYR1, NM_000540.2; NEB, NM_001164507.1; DNM2, NM_001005360.2; ACTA1, NM_001100.3; TNNT1, NM_001126132.1; TTN, NM_001267550.1. PMID: PubMed Unique Identifier
  2. Abbreviations: # Positive family history, Previously reported, / data unavailable, CCD Central core disease, MmD Multiminicore disease, NM Nemaline myopathy, CNM Centronuclear myopathy, CFTD Congenital muscle fiber disproportion, AD Autosomal dominant, AR Autosomal recessive, ACMG American College of Medical Genetics, LP Likely pathogenic