Skip to main content

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