Sugi Variant

Sugi Variant/CCNF

CCNF — 207 ClinVar variants

All ClinVar germline CCNF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 43 Benign · 4 Benign/Likely benign · 42 Likely benign · 114 Uncertain significance

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

⚑ Evidence disagreements 118

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 74

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 41

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

All CCNF variants

Pathogenic 2

  • p.Arg392Thr No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 5 ⚠
  • p.Glu624Lys No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 5 ⚠

Pathogenic/Likely pathogenic 1

  • p.Ser621Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 5 ⚠

Conflicting classifications of pathogenicity 1

Benign 43

Benign/Likely benign 4

Likely benign 42

Uncertain significance 114