SPPL2B — 5 ClinVar variants
All ClinVar germline SPPL2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Likely benign · 3 Uncertain significance
Full SPPL2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All SPPL2B variants
Likely benign 2
- p.Leu246His Single submitter
- p.Ser60Gly Single submitter
Uncertain significance 3
- p.Ala268Thr Single submitter ⚠
- p.Leu246Val Single submitter ⚠
- p.Pro535Ser Single submitter ⚠