Table 2

Summary of all published CC2D2A mutations, single heterozygous variants, and variants of unclear significance with phenotypic information

IdentificationCC2D2A mutations, cDNACC2D2A mutations, proteinP2 Div/VarCtrl allele % EU/AADxMTSECDD/IDOMA NystRDKidneyLiverPDReference
Review of all reported CC2D2A mutations/variants with phenotypic summary
 Noor et al31c.2338+1G>Cp.V728Efs*13NDJS++++NDNDNoor et al31
 F871c.4652T>C homp.L1551P0.86/0.270JSCVH+++Gorden et al7
 F434-21
  • c.517C>T

  • c.1676T>C

  • p.R173X

  • p.L559P

1.0/0.99
  • 0.01/0

  • 0

JSCVH++Otto et al32
 JBS-006c.2161C>T homp.P721S1.0/0.990JS+++NDMougou-Zerelli et al21
 JBS-008
  • c.3341C>T

  • c.4667A>T

  • p.T1114M

  • p.D1556V

  • 1.0/0.99

  • 0.98/0.74

  • 0

  • 0.03/0.03

JS+++NDMougou-Zerelli et al21
 A2421-21
  • c.3544T>C

  • c.3774_5insT

  • p.W1182R

  • p.E1259fs*1

1.0/0.99
  • 0

  • ND

MKSNA+NANANA++NDOtto et al32
 Tallila et al33c.1762C>Tp.V587Efs*290MKSNA+NANANA+++Tallila et al33
 MKS-84Dc.3399_3975del homp.A1134Nfs*9NDMKSNAOMNANANA++Mougou-Zerelli et al21
 MKS-54c.517C>T homp.R173X0.01/0MKSNA+NANANA+++Mougou-Zerelli et al21
 MKS-160c.3399–3C>A homIVS27(-3)0MKSNA+NANANA+ND+Mougou-Zerelli et al21
 MKS-414c.3584delT homp.F1195Sfs*11NDMKSNA+NANANA+ND+Mougou-Zerelli et al21
 MKS-977c.3084delG homp.K1029Rfs*3NDMKSNA+NANANA+NDMougou-Zerelli et al21
 MKS-011c.3145C>G homp.R1049X0MKSNAOMNANANA+++Mougou-Zerelli et al21
 MKS-143
  • c.3522_3523insTG

  • c.4496+2T>A

  • p.H1175Cfs*13

  • IVS36(+2)

  • ND

  • 0

MKSNAOMNANANA+ND+Mougou-Zerelli et al21
 MKS-982
  • c.1538T>A

  • c.4179+1delG

  • p.W513X

  • IVS33(+1)

  • 0

  • ND

MKSNAAnencepNANANA+++Mougou-Zerelli et al21
 MKS-365
  • c.2673C>T

  • c.2486+1G>C

  • p.R925X

  • IVS20(+1)

  • 0

  • 0

MKSNAOMNANANA+++Mougou-Zerelli et al21
Single heterozygous changes and variants of unclear significance
 A3208-21c.1519A>G hetp.K507E0.99/0.70JSNDNDNDNDND+NDNDOtto et al32
 A1421-21c.3056G>A hetp.R1019Q1.0/1.00JSNDNDNDNDND+NDNDOtto et al32
 MKS-987c.1339delG hetp.A447Rfs*11NDMKSNA+NANANA+++Mougou-Zerelli et al21
 MKS-692c.834delG hetp.L279Cfs*40NDMKSNADWNANANA+++Mougou-Zerelli et al21
 F16-21c.1519A>G hetp.K507E0.99/0.791.0/0.07SLNSNDNDNDND+ (ND)+NDNDOtto et al32
 A559-22c.2161C>T hetp.P721S1.0/0.990NPHPNDNDNDNDND+NDNDOtto et al32
 A944-21c.2161A>T hetp.P721S1.0/0.990NPHPNDNDNDNDND+NDNDOtto et al32
 A1347-21c.2161C>T hetp.P721S1.0/0.990NPHPNDNDNDNDND+NDNDOtto et al32
 A2426-21
  • c.685_7delGAA

  • c.3893T>A

  • p.E229del

  • p.V1298D

1.0/0.98
  • 3/ND

  • 0

MKSNA+NANANA+NDOtto et al32
  • Nonsense or frameshift mutations are in bold.

  • Anencep, anencephaly; Ctrl allele freq % EU/AA, control allele frequency as percentage in European Americans/African Americans; CVH, cerebellar vermis hypoplasia; DD/ID, developmental delay/ intellectual disability; DW, Dandy–Walker; Dx, diagnosis; EC, encephalocele; het, heterozygous; hom, homozygous; JS, Joubert syndrome; MKS, Meckel syndrome; MTS, molar tooth sign; NA, not applicable; ND, not documented; NPHP, nephronophthisis; Nyst, nystagmus; OM, occipital meningocele; OMA, oculomotor apraxia; PD, polydactyly; RD, retinal dystrophy; SLNS, Senior–Løken syndrome.