Sugi Variant

Sugi Variant/CHM

CHM — 931 ClinVar variants

All ClinVar germline CHM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

237 Pathogenic · 16 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 17 Conflicting · 78 Benign · 7 Benign/Likely benign · 299 Likely benign · 230 Uncertain significance

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

⚑ Evidence disagreements 222

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 127

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

Predictors split 89

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

All CHM variants

Pathogenic 237

Pathogenic/Likely pathogenic 16

Likely pathogenic 47

Conflicting classifications of pathogenicity 17

Benign 78

Benign/Likely benign 7

Likely benign 299

Uncertain significance 230