Sugi Variant

Sugi Variant/SUN5

SUN5 — 67 ClinVar variants

All ClinVar germline SUN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Likely benign · 55 Uncertain significance

Full SUN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 53

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 50

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

Predictors split 2

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

All SUN5 variants

Pathogenic 4

  • p.Met162Lys No assertion criteria spermatogenic failure 16 ⚠
  • p.Ser284Ter No assertion criteria spermatogenic failure 16
  • p.Thr275Met No assertion criteria spermatogenic failure 16
  • p.Val261Met No assertion criteria spermatogenic failure 16

Pathogenic/Likely pathogenic 1

  • p.Val128fs Multiple submitters spermatogenic failure 16

Likely pathogenic 3

Likely benign 4

Uncertain significance 55