Sugi Variant

Sugi Variant/AURKC

AURKC — 80 ClinVar variants

All ClinVar germline AURKC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 18 Benign · 1 Benign/Likely benign · 2 Likely benign · 51 Uncertain significance

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

⚑ Evidence disagreements 38

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 lean, ClinVar uncertain 23

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

Predictors split 15

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

All AURKC variants

Pathogenic 3

  • p.Tyr248Ter Multiple submitters spermatogenic failure 5
  • c.436-2A>G No assertion criteria spermatogenic failure 5
  • p.Cys229Tyr No assertion criteria spermatogenic failure 5

Pathogenic/Likely pathogenic 1

  • p.Leu49fs Multiple submitters spermatogenic failure 5

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

  • p.Met35fs Single submitter spermatogenic failure 5

Benign 18

Benign/Likely benign 1

  • p.Leu132= Multiple submitters spermatogenic failure 5

Likely benign 2

  • p.Pro207= Multiple submitters spermatogenic failure 5
  • p.Thr22Ala Single submitter Inborn genetic diseases

Uncertain significance 51