SF3A3 — 36 ClinVar variants
All ClinVar germline SF3A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Likely benign · 35 Uncertain significance
Full SF3A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SF3A3 p.Arg117Gln Uncertain significance Single submitter
- SF3A3 p.Arg281Gln Uncertain significance Single submitter
- SF3A3 p.Arg338Gln Uncertain significance Single submitter
- SF3A3 p.Arg58Thr Uncertain significance Single submitter
- SF3A3 p.Arg68Gln Uncertain significance Single submitter
- SF3A3 p.Asn100His Uncertain significance Single submitter
- SF3A3 p.Asn38Ser Uncertain significance Single submitter
- SF3A3 p.Asn73Ser Uncertain significance Single submitter
- SF3A3 p.Asp195Gly Uncertain significance Single submitter
- SF3A3 p.Glu14Val Uncertain significance Single submitter
- SF3A3 p.Glu366Asp Uncertain significance Single submitter
- SF3A3 p.Gly290Arg Uncertain significance Single submitter
- SF3A3 p.Gly484Ala Uncertain significance Single submitter
- SF3A3 p.His342Arg Uncertain significance Single submitter
- SF3A3 p.Ile320Met Uncertain significance Single submitter
- SF3A3 p.Lys311Asn Uncertain significance Single submitter
- SF3A3 p.Lys64Glu Uncertain significance Single submitter
- SF3A3 p.Thr3Ile Uncertain significance Single submitter
- SF3A3 p.Thr43Ser Uncertain significance Single submitter
- SF3A3 p.Tyr139Cys Uncertain significance Single submitter
- SF3A3 p.Tyr149His Uncertain significance Single submitter
- SF3A3 p.Tyr394His Uncertain significance Single submitter
- SF3A3 p.Tyr394Ser Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- SF3A3 p.Ala256Val Uncertain significance Single submitter
- SF3A3 p.Arg138His Uncertain significance Single submitter
- SF3A3 p.Asn79Ser Uncertain significance Single submitter
- SF3A3 p.Asp141Glu Uncertain significance Single submitter
- SF3A3 p.Asp297His Uncertain significance Single submitter
- SF3A3 p.Glu279Lys Uncertain significance Single submitter
- SF3A3 p.Gly335Arg Uncertain significance Single submitter
- SF3A3 p.Ile102Leu Uncertain significance Single submitter
- SF3A3 p.Lys183Asn Uncertain significance Single submitter
- SF3A3 p.Thr233Arg Uncertain significance Single submitter
- SF3A3 p.Thr238Asn Uncertain significance Single submitter
All SF3A3 variants
Likely benign 1
- p.Glu222Asp Single submitter
Uncertain significance 35
- p.Ala256Val Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg338Gln Single submitter ⚠
- p.Arg58Thr Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Asn100His Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Asn73Ser Single submitter ⚠
- p.Asn79Ser Single submitter ⚠
- p.Asp141Glu Single submitter ⚠
- p.Asp144Gly Single submitter
- p.Asp195Gly Single submitter ⚠
- p.Asp297His Single submitter ⚠
- p.Glu14Val Single submitter ⚠
- p.Glu279Lys Single submitter ⚠
- p.Glu366Asp Single submitter ⚠
- p.Gly290Arg Single submitter ⚠
- p.Gly335Arg Single submitter ⚠
- p.Gly484Ala Single submitter ⚠
- p.His342Arg Single submitter ⚠
- p.Ile102Leu Single submitter ⚠
- p.Ile320Met Single submitter ⚠
- p.Lys183Asn Single submitter ⚠
- p.Lys311Asn Single submitter ⚠
- p.Lys64Glu Single submitter ⚠
- p.Thr233Arg Single submitter ⚠
- p.Thr238Asn Single submitter ⚠
- p.Thr3Ile Single submitter ⚠
- p.Thr43Ser Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠
- p.Tyr149His Single submitter ⚠
- p.Tyr394His Single submitter ⚠
- p.Tyr394Ser Single submitter ⚠