Sugi Variant

Sugi Variant/USP45

USP45 — 144 ClinVar variants

All ClinVar germline USP45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 2 Conflicting · 13 Benign · 2 Benign/Likely benign · 14 Likely benign · 106 Uncertain significance

Full USP45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 lean, ClinVar uncertain 83

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

Predictors split 9

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

All USP45 variants

Pathogenic 3

  • p.Ser508Ter Single submitter Leber congenital amaurosis 19
  • p.Arg312Gln No assertion criteria Leber congenital amaurosis 19
  • p.Gly664Ter No assertion criteria Short stature

Likely pathogenic 4

  • p.Arg443Ter Single submitter Leber congenital amaurosis 19
  • p.Asp293fs Single submitter Leber congenital amaurosis 19
  • p.His702fs Single submitter Leber congenital amaurosis 19
  • p.Lys311fs No assertion criteria Leber congenital amaurosis 19

Conflicting classifications of pathogenicity 2

  • p.Glu220Ter Single submitter Leber congenital amaurosis 19
  • p.Tyr730Ter Single submitter Leber congenital amaurosis 19

Benign 13

Benign/Likely benign 2

Likely benign 14

Uncertain significance 106