Sugi Variant

Sugi Variant/C1QTNF5

C1QTNF5 — 219 ClinVar variants

All ClinVar germline C1QTNF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 10 Conflicting · 3 Benign · 1 Benign/Likely benign · 67 Likely benign · 133 Uncertain significance

Full C1QTNF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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.

Predictors lean, ClinVar uncertain 69

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

Predictors split 37

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

All C1QTNF5 variants

Pathogenic/Likely pathogenic 2

  • p.Pro188Thr Multiple submitters inherited retinal dystrophy
  • p.Ser163Arg Multiple submitters inherited retinal dystrophy

Likely pathogenic 3

  • p.Pro188Ala Single submitter late-onset retinal degeneration
  • p.Pro186Ser No assertion criteria inherited retinal dystrophy ⚠
  • p.Ser190Trp No assertion criteria inherited retinal dystrophy

Conflicting classifications of pathogenicity 10

Benign 3

Benign/Likely benign 1

  • c.*34C>G Single submitter isolated microphthalmia 5

Likely benign 67

Uncertain significance 133