Sugi Variant

Sugi Variant/NDP

NDP — 218 ClinVar variants

All ClinVar germline NDP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

44 Pathogenic · 7 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 13 Conflicting · 5 Benign · 5 Benign/Likely benign · 44 Likely benign · 65 Uncertain significance

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

⚑ Evidence disagreements 84

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 8

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 39

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

Predictors split 35

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

All NDP variants

Pathogenic 44

Pathogenic/Likely pathogenic 7

Likely pathogenic 35

Conflicting classifications of pathogenicity 13

Benign 5

Benign/Likely benign 5

Likely benign 44

Uncertain significance 65