SPIN4 — 14 ClinVar variants
All ClinVar germline SPIN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Pathogenic · 1 Likely benign · 12 Uncertain significance
Full SPIN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SPIN4 p.Arg144Leu Uncertain significance Single submitter
- SPIN4 p.Arg37Gly Uncertain significance Single submitter
- SPIN4 p.Arg38Lys Uncertain significance Single submitter
- SPIN4 p.His25Tyr Uncertain significance Single submitter
- SPIN4 p.Ile238Val Uncertain significance Single submitter
- SPIN4 p.Ser2Tyr Uncertain significance Single submitter
- SPIN4 p.Tyr163Ser Uncertain significance Single submitter
- SPIN4 p.Tyr184His Uncertain significance Single submitter
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SPIN4 p.Val242Asp
Uncertain significance
Single submitter
Lui-Jee-Baron syndrome
Predictors split 3
The independent predictors disagree with each other — read with care.
All SPIN4 variants
Pathogenic 1
- p.Arg104fs Single submitter Lui-Jee-Baron syndrome
Likely benign 1
- p.Ala143= Single submitter
Uncertain significance 12
- p.Arg144Leu Single submitter ⚠
- p.Arg37Gly Single submitter ⚠
- p.Arg38Lys Single submitter ⚠
- p.His207Gln Single submitter ⚠
- p.His25Tyr Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Met148Ile Single submitter ⚠
- p.Ser117Cys Single submitter ⚠
- p.Ser2Tyr Single submitter ⚠
- p.Tyr163Ser Single submitter ⚠
- p.Tyr184His Single submitter ⚠
- p.Val242Asp Single submitter Lui-Jee-Baron syndrome ⚠