Sugi Variant

Sugi Variant/USP7

USP7 — 603 ClinVar variants

All ClinVar germline USP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

20 Pathogenic · 2 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 8 Conflicting · 44 Benign · 16 Benign/Likely benign · 220 Likely benign · 259 Uncertain significance

Full USP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 3

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 152

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 152

Predictors split 61

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

All USP7 variants

Pathogenic 20

Pathogenic/Likely pathogenic 2

  • p.Arg1018Ter Multiple submitters neurodevelopmental disorder
  • p.Gln866Ter Multiple submitters Hao-Fountain syndrome

Likely pathogenic 34

Conflicting classifications of pathogenicity 8

Benign 44

Benign/Likely benign 16

Likely benign 220

Uncertain significance 259