Sugi Variant

Sugi Variant/CATSPER1

CATSPER1 — 220 ClinVar variants

All ClinVar germline CATSPER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 17 Benign · 4 Benign/Likely benign · 27 Likely benign · 161 Uncertain significance

Full CATSPER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 136

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 120

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

Predictors split 12

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

All CATSPER1 variants

Pathogenic 2

  • p.Asp317fs No assertion criteria spermatogenic failure 7
  • p.His182fs No assertion criteria spermatogenic failure 7

Likely pathogenic 1

  • p.Arg297Ter No assertion criteria spermatogenic failure 7

Conflicting classifications of pathogenicity 8

Benign 17

Benign/Likely benign 4

  • p.Arg295Trp Multiple submitters spermatogenic failure 7
  • p.Cys489= Multiple submitters spermatogenic failure 7
  • p.Leu551= Multiple submitters spermatogenic failure 7
  • p.Val353Ile Multiple submitters spermatogenic failure 7

Likely benign 27

Uncertain significance 161