PFDN1 — 10 ClinVar variants
All ClinVar germline PFDN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Likely benign · 9 Uncertain significance
Full PFDN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All PFDN1 variants
Likely benign 1
- p.Ser78Asn Single submitter
Uncertain significance 9
- p.Arg103Gln Single submitter ⚠
- p.Glu74Asp Single submitter ⚠
- p.Glu82Gln Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Ile32Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu37Arg Single submitter ⚠
- p.Thr40Lys Single submitter ⚠
- p.Val5Ala Single submitter ⚠