Sugi Variant

Sugi Variant/CFAP61

CFAP61 — 221 ClinVar variants

All ClinVar germline CFAP61 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 17 Likely benign · 194 Uncertain significance

Full CFAP61 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 2

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 118

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

Predictors split 79

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

All CFAP61 variants

Pathogenic 6

  • p.Arg283Ter Single submitter spermatogenic failure 84
  • c.143+5G>A No assertion criteria spermatogenic failure 84
  • c.144-2A>G No assertion criteria spermatogenic failure 84
  • p.Asp971Asn No assertion criteria spermatogenic failure 84 ⚠
  • p.Gly556Arg No assertion criteria spermatogenic failure 84
  • p.Ile151fs No assertion criteria spermatogenic failure 84

Pathogenic/Likely pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Likely benign 17

Uncertain significance 194