SF3A1 — 51 ClinVar variants
All ClinVar germline SF3A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Pathogenic · 1 Benign · 1 Likely benign · 48 Uncertain significance
Full SF3A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SF3A1 p.Ala404Thr Uncertain significance Single submitter
- SF3A1 p.Ala615Thr Uncertain significance Single submitter
- SF3A1 p.Ala659Thr Uncertain significance Single submitter
- SF3A1 p.Arg472Trp Uncertain significance Single submitter
- SF3A1 p.Arg607Gln Uncertain significance Single submitter
- SF3A1 p.Asn192Ser Uncertain significance Single submitter
- SF3A1 p.Asn235Ser Uncertain significance Single submitter
- SF3A1 p.Asn290Ser Uncertain significance Single submitter
- SF3A1 p.Asn551Ser Uncertain significance Single submitter
- SF3A1 p.Asn627Thr Uncertain significance Single submitter
- SF3A1 p.Gln292His Uncertain significance Single submitter
- SF3A1 p.Gln450Arg Uncertain significance Single submitter
- SF3A1 p.Glu238Asp Uncertain significance Single submitter
- SF3A1 p.Glu26Ala Uncertain significance Single submitter
- SF3A1 p.Glu677Asp Uncertain significance Single submitter
- SF3A1 p.Ile218Met Uncertain significance Single submitter
- SF3A1 p.Leu229Pro Uncertain significance Single submitter
- SF3A1 p.Lys230Gln Uncertain significance Single submitter
- SF3A1 p.Lys264Arg Uncertain significance Single submitter
- SF3A1 p.Lys702Arg Uncertain significance Single submitter
- SF3A1 p.Met376Ile Uncertain significance Single submitter
- SF3A1 p.Met631Val Uncertain significance Single submitter
- SF3A1 p.Met646Val Uncertain significance Single submitter
- SF3A1 p.Pro10Leu Uncertain significance Single submitter
- SF3A1 p.Pro10Thr Uncertain significance Single submitter
- SF3A1 p.Pro129Ala Uncertain significance Single submitter
- SF3A1 p.Pro13Leu Uncertain significance Single submitter
- SF3A1 p.Pro16Ser Uncertain significance Single submitter
- SF3A1 p.Pro384Ser Uncertain significance Single submitter
- SF3A1 p.Pro558Leu Uncertain significance Single submitter
- SF3A1 p.Pro595Ser Uncertain significance Single submitter
- SF3A1 p.Pro636Ser Uncertain significance Single submitter
- SF3A1 p.Pro674Ala Uncertain significance Single submitter
- SF3A1 p.Pro675His Uncertain significance Single submitter
- SF3A1 p.Ser568Asn Uncertain significance Single submitter
- SF3A1 p.Thr17Met Uncertain significance Single submitter
- SF3A1 p.Thr748Ala Uncertain significance Single submitter
- SF3A1 p.Val269Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- SF3A1 p.Asn85Lys Uncertain significance Single submitter
- SF3A1 p.Glu688Asp Uncertain significance Single submitter
- SF3A1 p.His96Arg Uncertain significance Single submitter
- SF3A1 p.Ile545Ser Uncertain significance Single submitter
- SF3A1 p.Ile76Phe Uncertain significance Single submitter
- SF3A1 p.Lys230Asn Uncertain significance Single submitter
- SF3A1 p.Pro146Ser Uncertain significance Single submitter
- SF3A1 p.Pro643Ser Uncertain significance Single submitter
- SF3A1 p.Pro666Leu Uncertain significance Single submitter
All SF3A1 variants
Pathogenic 1
- p.Ser548fs No assertion criteria diffuse large B-cell lymphoma
Benign 1
- c.651+8G>C Multiple submitters
Likely benign 1
- p.Pro109= Single submitter
Uncertain significance 48
- p.Ala404Thr Single submitter ⚠
- p.Ala615Thr Single submitter ⚠
- p.Ala659Thr Single submitter ⚠
- p.Arg472Trp Single submitter ⚠
- p.Arg607Gln Single submitter ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn551Ser Single submitter ⚠
- p.Asn627Thr Single submitter ⚠
- p.Asn85Lys Single submitter ⚠
- p.Gln292His Single submitter ⚠
- p.Gln450Arg Single submitter ⚠
- p.Glu238Asp Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Glu677Asp Single submitter ⚠
- p.Glu688Asp Single submitter ⚠
- p.Gly224Cys Single submitter
- p.His96Arg Single submitter ⚠
- p.Ile218Met Single submitter ⚠
- p.Ile545Ser Single submitter ⚠
- p.Ile76Phe Single submitter ⚠
- p.Leu229Pro Single submitter ⚠
- p.Lys230Asn Single submitter ⚠
- p.Lys230Gln Single submitter ⚠
- p.Lys264Arg Single submitter ⚠
- p.Lys702Arg Single submitter ⚠
- p.Met376Ile Single submitter ⚠
- p.Met631Val Single submitter ⚠
- p.Met646Val Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro10Thr Single submitter ⚠
- p.Pro129Ala Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro146Ser Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Pro558Leu Single submitter ⚠
- p.Pro595Ser Single submitter ⚠
- p.Pro636Ser Single submitter ⚠
- p.Pro643Ser Single submitter ⚠
- p.Pro666Leu Single submitter ⚠
- p.Pro674Ala Single submitter ⚠
- p.Pro675His Single submitter ⚠
- p.Ser568Asn Single submitter ⚠
- p.Thr17Met Single submitter ⚠
- p.Thr748Ala Single submitter ⚠
- p.Val269Gly Single submitter ⚠