Sugi Variant

Sugi Variant/CFAP43

CFAP43 — 310 ClinVar variants

All ClinVar germline CFAP43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 8 Conflicting · 15 Benign · 2 Benign/Likely benign · 35 Likely benign · 224 Uncertain significance

Full CFAP43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 137

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

Predictors split 93

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

All CFAP43 variants

Pathogenic 16

Pathogenic/Likely pathogenic 1

  • p.Arg894Ter Multiple submitters spermatogenic failure 19

Likely pathogenic 9

Conflicting classifications of pathogenicity 8

Benign 15

Benign/Likely benign 2

Likely benign 35

Uncertain significance 224