CFAP54 — 18 ClinVar variants
All ClinVar germline CFAP54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
6 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 6 Likely benign · 2 Uncertain significance
Full CFAP54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All CFAP54 variants
Pathogenic 6
- p.Cys1993fs Single submitter ciliary dyskinesia, primary, 54
- p.Arg1629Cys No assertion criteria spermatogenic failure 98
- p.Arg293His No assertion criteria spermatogenic failure 98
- p.Arg319Cys No assertion criteria spermatogenic failure 98
- p.Gly313Arg No assertion criteria spermatogenic failure 98
- p.Phe1106fs No assertion criteria spermatogenic failure 98
Likely pathogenic 3
- p.Gln649Ter Single submitter ciliary dyskinesia, primary, 54
- p.Leu2882fs Single submitter spermatogenic failure 98
- p.Phe1571fs Single submitter
Conflicting classifications of pathogenicity 1
- p.Lys618Ter Single submitter
Likely benign 6
- p.Pro22= Multiple submitters
- c.9171+4T>C Single submitter
- p.Arg1020Trp Single submitter
- p.Arg1216His Single submitter
- p.Met1434Ile Single submitter
- p.Met1513Ile Single submitter
Uncertain significance 2
- p.Arg915Gln Single submitter ⚠
- p.Asn992Asp Single submitter ⚠