SFN — 32 ClinVar variants
All ClinVar germline SFN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
32 Uncertain significance
Full SFN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SFN p.Ala194Thr Uncertain significance Single submitter
- SFN p.Arg117Gln Uncertain significance Single submitter
- SFN p.Arg82His Uncertain significance Single submitter
- SFN p.Asn226Ser Uncertain significance Single submitter
- SFN p.Asp104Val Uncertain significance Single submitter
- SFN p.Gln247Arg Uncertain significance Single submitter
- SFN p.Glu110Lys Uncertain significance Single submitter
- SFN p.Glu161Gly Uncertain significance Single submitter
- SFN p.Glu200Gln Uncertain significance Single submitter
- SFN p.Glu245Gln Uncertain significance Single submitter
- SFN p.Glu71Lys Uncertain significance Single submitter
- SFN p.Glu76Gln Uncertain significance Single submitter
- SFN p.Gly171Val Uncertain significance Single submitter
- SFN p.Gly236Glu Uncertain significance Single submitter
- SFN p.Gly78Val Uncertain significance Single submitter
- SFN p.Leu205Arg Uncertain significance Single submitter
- SFN p.Lys159Gln Uncertain significance Single submitter
- SFN p.Lys32Glu Uncertain significance Single submitter
- SFN p.Lys87Arg Uncertain significance Single submitter
- SFN p.Met22Thr Uncertain significance Single submitter
- SFN p.Met22Val Uncertain significance Single submitter
- SFN p.Pro163Leu Uncertain significance Single submitter
- SFN p.Thr196Ser Uncertain significance Single submitter
- SFN p.Trp59Cys Uncertain significance Single submitter
- SFN p.Val61Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SFN variants
Uncertain significance 32
- p.Ala194Thr Single submitter ⚠
- p.Ala23Ser Single submitter
- p.Ala29Asp Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Asn226Ser Single submitter ⚠
- p.Asp104Val Single submitter ⚠
- p.Gln247Arg Single submitter ⚠
- p.Glu110Lys Single submitter ⚠
- p.Glu161Gly Single submitter ⚠
- p.Glu200Gln Single submitter ⚠
- p.Glu20Lys Single submitter
- p.Glu245Gln Single submitter ⚠
- p.Glu31Gln Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Glu76Gln Single submitter ⚠
- p.Gly171Val Single submitter ⚠
- p.Gly236Arg Single submitter ⚠
- p.Gly236Glu Single submitter ⚠
- p.Gly239Arg Single submitter ⚠
- p.Gly78Val Single submitter ⚠
- p.Leu205Arg Single submitter ⚠
- p.Lys159Gln Single submitter ⚠
- p.Lys32Glu Single submitter ⚠
- p.Lys87Arg Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met22Val Single submitter ⚠
- p.Phe179Tyr Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Thr196Ser Single submitter ⚠
- p.Trp59Cys Single submitter ⚠
- p.Val61Leu Single submitter ⚠