Sugi Variant

Sugi Variant/OTUD5

OTUD5 — 102 ClinVar variants

All ClinVar germline OTUD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 1 Benign · 17 Likely benign · 72 Uncertain significance

Full OTUD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 54

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

Predictors split 8

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

All OTUD5 variants

Pathogenic 5

  • p.Gly489Ser Single submitter multiple congenital anomalies-neurodevelopmental syndrome, X-linked ⚠
  • p.Arg399Trp No assertion criteria multiple congenital anomalies-neurodevelopmental syndrome, X-linked
  • p.Gln493Ter No assertion criteria multiple congenital anomalies-neurodevelopmental syndrome, X-linked
  • p.Glu200Lys No assertion criteria multiple congenital anomalies-neurodevelopmental syndrome, X-linked
  • p.Leu347Pro No assertion criteria multiple congenital anomalies-neurodevelopmental syndrome, X-linked

Likely pathogenic 4

  • p.Arg515Trp Multiple submitters multiple congenital anomalies-neurodevelopmental syndrome, X-linked ⚠
  • p.Arg515Leu Single submitter intellectual disability ⚠
  • p.Met288Thr Single submitter multiple congenital anomalies-neurodevelopmental syndrome, X-linked
  • p.Ser367Leu Single submitter OTUD5-related disorder

Conflicting classifications of pathogenicity 3

  • p.Ala223Thr Single submitter multiple congenital anomalies-neurodevelopmental syndrome, X-linked ⚠
  • p.Gly42_Gly48del Single submitter OTUD5-related disorder
  • p.Pro20Thr Single submitter Inborn genetic diseases ⚠

Benign 1

Likely benign 17

Uncertain significance 72