Sugi Variant

Sugi Variant/CIC

CIC — 905 ClinVar variants

All ClinVar germline CIC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 363 flagged for review →

26 Pathogenic · 1 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 28 Conflicting · 17 Benign · 11 Benign/Likely benign · 265 Likely benign · 509 Uncertain significance

Full CIC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 363

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 18

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 270

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 270

Predictors split 73

The independent predictors disagree with each other — read with care.

All CIC variants

Pathogenic 26

Pathogenic/Likely pathogenic 1

  • p.Pro788fs Multiple submitters intellectual disability, autosomal dominant 45

Likely pathogenic 48

  • c.3179+1G>A Multiple submitters
  • c.5903-2A>G Multiple submitters intellectual disability, autosomal dominant 45
  • p.Asn1136Ser Multiple submitters CIC-related neurodevelopmental disorders
  • c.5903-1G>A Single submitter intellectual disability, autosomal dominant 45
  • c.6767+2T>C Single submitter Inborn genetic diseases
  • p.Ala1694fs Single submitter intellectual disability, autosomal dominant 45
  • p.Ala1809fs Single submitter intellectual disability, autosomal dominant 45
  • p.Arg1110fs Single submitter
  • p.Arg2080fs Single submitter intellectual disability, autosomal dominant 45
  • p.Arg528Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Arg800Cys Single submitter CIC-related disorder
  • p.Asp1428fs Single submitter
  • p.Asp2255Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp38fs Single submitter intellectual disability, autosomal dominant 45
  • p.Gln1129Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Gln1799Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Gln1901Ter Single submitter Marfanoid habitus and intellectual disability
  • p.Gln2019Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Gln2115fs Single submitter intellectual disability, autosomal dominant 45
  • p.Gln894fs Single submitter intellectual disability, autosomal dominant 45
  • p.Glu1013fs Single submitter
  • p.Glu103fs Single submitter intellectual disability, autosomal dominant 45
  • p.Glu1105Ter Single submitter Neurodevelopmental delay
  • p.Glu1145Lys Single submitter
  • p.Glu1223Ter Single submitter
  • p.Glu2265Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Glu985fs Single submitter
  • p.Gly1144= Single submitter
  • p.Gly1532Ter Single submitter intellectual disability, autosomal dominant 45
  • p.Gly544fs Single submitter intellectual disability, autosomal dominant 45
  • p.Leu1143Pro Single submitter intellectual disability, autosomal dominant 45
  • p.Leu1500fs Single submitter CIC-related disorder
  • p.Pro1418fs Single submitter
  • p.Pro1999fs Single submitter intellectual disability, autosomal dominant 45
  • p.Ser1063fs Single submitter intellectual disability, autosomal dominant 45
  • p.Ser1279fs Single submitter
  • p.Ser1558fs Single submitter
  • p.Ser1624fs Single submitter intellectual disability, autosomal dominant 45
  • p.Ser452Asn Single submitter intellectual disability, autosomal dominant 45
  • p.Thr1661fs Single submitter autism spectrum disorder
  • p.Trp343fs Single submitter intellectual disability, autosomal dominant 45
  • p.Trp946Arg Single submitter
  • p.Val2031fs Single submitter intellectual disability, autosomal dominant 45
  • p.Ala1975fs No assertion criteria
  • p.Arg1124Trp No assertion criteria intellectual disability, autosomal dominant 45
  • p.Glu1356fs No assertion criteria CIC-related disorder
  • p.Lys1166Met No assertion criteria CIC-related disorder
  • p.Pro1406Leu No assertion criteria CIC-related disorder ⚠

Conflicting classifications of pathogenicity 28

Benign 17

Benign/Likely benign 11

Likely benign 265

Uncertain significance 509

Showing the top 300 by review status; the full set is in the sitemap.