PFDN6 — 9 ClinVar variants
All ClinVar germline PFDN6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Benign · 8 Uncertain significance
Full PFDN6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFDN6 p.Ala118Val Uncertain significance Single submitter
- PFDN6 p.Ala121Val Uncertain significance Single submitter
- PFDN6 p.Arg73Gln Uncertain significance Single submitter
- PFDN6 p.Gly127Ser Uncertain significance Single submitter
- PFDN6 p.Leu59Ile Uncertain significance Single submitter
- PFDN6 p.Pro126Leu Uncertain significance Single submitter
- PFDN6 p.Tyr82Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PFDN6 variants
Benign 1
- p.Ala129= Single submitter
Uncertain significance 8
- p.Ala118Val Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Gln67Glu Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Leu59Ile Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Tyr82Cys Single submitter ⚠