Sugi Variant

Sugi Variant/CCDC146

CCDC146 — 127 ClinVar variants

All ClinVar germline CCDC146 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 5 Likely benign · 116 Uncertain significance

Full CCDC146 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 lean, ClinVar uncertain 77

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

Predictors split 40

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

All CCDC146 variants

Pathogenic 3

  • p.Arg362Ter Single submitter spermatogenic failure 94
  • p.Arg362Gly No assertion criteria Male infertility with spermatogenesis disorder due to single gene mutation ⚠
  • p.Arg704fs No assertion criteria Male infertility with spermatogenesis disorder due to single gene mutation

Likely pathogenic 3

  • c.450-1G>T Single submitter spermatogenic failure 94
  • p.Ala204fs Single submitter spermatogenic failure 94
  • p.Arg306Ter Single submitter spermatogenic failure 94

Likely benign 5

Uncertain significance 116