AFDN — 19 ClinVar variants
All ClinVar germline AFDN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Benign · 3 Likely benign · 15 Uncertain significance
Full AFDN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFDN p.Arg999His Uncertain significance Single submitter
- AFDN p.Asp1176Glu Uncertain significance Single submitter
- AFDN p.Asp539His Uncertain significance Single submitter
- AFDN p.His1331Arg Uncertain significance Single submitter
- AFDN p.Ile540Thr Uncertain significance Single submitter
- AFDN p.Lys1162Glu Uncertain significance Single submitter
- AFDN p.Met1311Thr Uncertain significance Single submitter
- AFDN p.Met1469Val Uncertain significance Single submitter
- AFDN p.Pro1161Ala Uncertain significance Single submitter
- AFDN p.Ser239Asn Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All AFDN variants
Benign 1
- p.Thr1218= Single submitter
Likely benign 3
- p.Ala1409= Single submitter
- p.Ala1687= Single submitter
- p.Ile297= Single submitter
Uncertain significance 15
- p.Ile438Val Multiple submitters ⚠
- p.Arg1634Leu Single submitter ⚠
- p.Arg999His Single submitter ⚠
- p.Asp1176Glu Single submitter ⚠
- p.Asp1516Ala Single submitter ⚠
- p.Asp539His Single submitter ⚠
- p.Glu658Gly Single submitter ⚠
- p.His1331Arg Single submitter ⚠
- p.Ile540Thr Single submitter ⚠
- p.Ile853Ter Single submitter
- p.Lys1162Glu Single submitter ⚠
- p.Met1311Thr Single submitter ⚠
- p.Met1469Val Single submitter ⚠
- p.Pro1161Ala Single submitter ⚠
- p.Ser239Asn Single submitter ⚠