Sugi Variant

Sugi Variant/CHAMP1

CHAMP1 — 357 ClinVar variants

All ClinVar germline CHAMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

36 Pathogenic · 2 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 7 Conflicting · 11 Benign · 8 Benign/Likely benign · 93 Likely benign · 179 Uncertain significance

Full CHAMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

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 4

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

Predicted LoF vs a conflicting call 1

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 137

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

Predictors split 40

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

All CHAMP1 variants

Pathogenic 36

Pathogenic/Likely pathogenic 2

  • p.Ser181fs Multiple submitters intellectual disability, autosomal dominant 40
  • p.Tyr709Ter Multiple submitters

Likely pathogenic 21

Conflicting classifications of pathogenicity 7

Benign 11

Benign/Likely benign 8

Likely benign 93

Uncertain significance 179