Sugi Variant

Sugi Variant/EXOSC5

EXOSC5 — 68 ClinVar variants

All ClinVar germline EXOSC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Benign · 7 Likely benign · 54 Uncertain significance

Full EXOSC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 32

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

Predictors split 17

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

All EXOSC5 variants

Pathogenic 3

  • c.526-72_689del No assertion criteria cerebellar ataxia, brain abnormalities, and cardiac conduction defects
  • p.His30fs No assertion criteria cerebellar ataxia, brain abnormalities, and cardiac conduction defects
  • p.Leu206His No assertion criteria cerebellar ataxia, brain abnormalities, and cardiac conduction defects ⚠

Pathogenic/Likely pathogenic 2

  • p.Thr101Lys Multiple submitters cerebellar ataxia, brain abnormalities, and cardiac conduction defects
  • p.Thr114Ile Multiple submitters cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Likely pathogenic 1

Benign 1

Likely benign 7

Uncertain significance 54