Sugi Variant

Sugi Variant/SCYL2

SCYL2 — 142 ClinVar variants

All ClinVar germline SCYL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 4 Benign · 12 Likely benign · 116 Uncertain significance

Full SCYL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 88

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

The independent predictors disagree with each other — read with care.

All SCYL2 variants

Pathogenic 5

  • p.Arg100Ter Single submitter Inborn genetic diseases
  • p.Arg36Ter Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Asp72_Glu78del Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Gln59Ter Single submitter Inborn genetic diseases
  • p.Val542fs No assertion criteria arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Likely pathogenic 5

  • p.Asp33fs Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Cys200fs Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Glu60fs Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Met777fs Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Tyr405Ter Single submitter arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Benign 4

  • c.1096-23T>A Multiple submitters arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • c.177+35C>A Multiple submitters arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Leu723= Multiple submitters arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
  • p.Glu663Lys Single submitter

Likely benign 12

Uncertain significance 116