Sugi Variant

Sugi Variant/CCDC22

CCDC22 — 213 ClinVar variants

All ClinVar germline CCDC22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 17 Conflicting · 6 Benign · 4 Benign/Likely benign · 38 Likely benign · 145 Uncertain significance

Full CCDC22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 154

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 1

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 74

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

All CCDC22 variants

Pathogenic 2

  • p.Thr17Ala No assertion criteria Ritscher-Schinzel syndrome 2 ⚠
  • p.Tyr557Cys No assertion criteria Ritscher-Schinzel syndrome 2

Likely pathogenic 1

Conflicting classifications of pathogenicity 17

Benign 6

Benign/Likely benign 4

Likely benign 38

Uncertain significance 145