Sugi Variant

Sugi Variant/STIL

STIL — 465 ClinVar variants

All ClinVar germline STIL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

14 Pathogenic · 16 Likely pathogenic · 27 Conflicting · 44 Benign · 8 Benign/Likely benign · 100 Likely benign · 256 Uncertain significance

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

⚑ Evidence disagreements 227

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 192

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 192

Predictors split 18

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

All STIL variants

Pathogenic 14

Likely pathogenic 16

Conflicting classifications of pathogenicity 27

Benign 44

Benign/Likely benign 8

  • c.2384-13A>G Multiple submitters microcephaly 7, primary, autosomal recessive
  • c.453+18C>T Multiple submitters
  • c.786-16T>A Multiple submitters
  • p.Arg1126= Multiple submitters microcephaly 7, primary, autosomal recessive
  • p.Leu485Phe Multiple submitters Inborn genetic diseases
  • p.Ser1172Phe Multiple submitters microcephaly 7, primary, autosomal recessive
  • p.Ser673Gly Multiple submitters microcephaly 7, primary, autosomal recessive
  • p.Thr1262= Multiple submitters microcephaly 7, primary, autosomal recessive

Likely benign 100

Uncertain significance 256