Sugi Variant

Sugi Variant/CLIC5

CLIC5 — 159 ClinVar variants

All ClinVar germline CLIC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 29 Benign · 7 Benign/Likely benign · 48 Likely benign · 64 Uncertain significance

Full CLIC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 34

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

Predictors split 32

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

All CLIC5 variants

Pathogenic 2

  • p.Asp179fs Single submitter autosomal recessive nonsyndromic hearing loss 103
  • p.Cys32Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 103

Likely pathogenic 1

  • p.Trp215Ter No assertion criteria hearing loss, autosomal recessive

Conflicting classifications of pathogenicity 8

Benign 29

Benign/Likely benign 7

Likely benign 48

Uncertain significance 64