SUMO1 — 20 ClinVar variants
All ClinVar germline SUMO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
3 Benign · 3 Likely benign · 14 Uncertain significance
Full SUMO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All SUMO1 variants
Benign 3
- c.12+251T>C Multiple submitters
- c.88-150A>G Multiple submitters
- c.13-160C>G Single submitter
Likely benign 3
- c.-32T>G Multiple submitters orofacial cleft 10
- c.88-19_88-18del Single submitter
- c.-94G>A Single submitter orofacial cleft 10
Uncertain significance 14
- c.88-8C>T Single submitter orofacial cleft 10
- c.-48C>T Single submitter orofacial cleft 10
- c.-83A>G Single submitter orofacial cleft 10
- c.*1038C>T Single submitter orofacial cleft 10
- c.*475A>G Single submitter orofacial cleft 10
- c.*545G>T Single submitter orofacial cleft 10
- c.*724A>G Single submitter orofacial cleft 10
- c.*753C>G Single submitter orofacial cleft 10
- c.*776A>T Single submitter orofacial cleft 10
- c.*814G>A Single submitter orofacial cleft 10
- c.*884A>G Single submitter orofacial cleft 10
- c.*944G>C Single submitter orofacial cleft 10
- p.Gln29Pro Single submitter ⚠
- p.Thr95Met Single submitter ⚠