SKP1 — 7 ClinVar variants
All ClinVar germline SKP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
7 Uncertain significance
Full SKP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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.
Predictors split 3
The independent predictors disagree with each other — read with care.
All SKP1 variants
Uncertain significance 7
- p.Arg136Cys Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Gln60His Single submitter ⚠
- p.Gln7His Single submitter ⚠
- p.Ile85Thr Single submitter ⚠
- c.456+19T>G No assertion criteria keratoconus 1