Sugi Variant

Sugi Variant/SPEF2

SPEF2 — 412 ClinVar variants

All ClinVar germline SPEF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

9 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 79 Benign · 42 Likely benign · 274 Uncertain significance

Full SPEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 4

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

Predictors lean, ClinVar uncertain 212

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 212

Predictors split 44

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

All SPEF2 variants

Pathogenic 9

  • c.2507+5del Single submitter primary ciliary dyskinesia
  • p.Gln735Ter Single submitter spermatogenic failure 43
  • c.1745-2A>G No assertion criteria spermatogenic failure 43
  • p.Glu1368Ter No assertion criteria spermatogenic failure 43
  • p.Leu5fs No assertion criteria spermatogenic failure 43
  • p.Phe1080fs No assertion criteria spermatogenic failure 43
  • p.Pro912fs No assertion criteria spermatogenic failure 43
  • p.Val1443fs No assertion criteria spermatogenic failure 43
  • p.Val1651fs No assertion criteria spermatogenic failure 43

Likely pathogenic 3

  • c.3949+1G>T Single submitter SPEF2-related disorder
  • p.Gln196Ter Single submitter primary ciliary dyskinesia
  • p.Gln599Ter No assertion criteria SPEF2-related disorder

Conflicting classifications of pathogenicity 5

Benign 79

Likely benign 42

Uncertain significance 274