Sugi Variant

Sugi Variant/LAS1L

LAS1L — 254 ClinVar variants

All ClinVar germline LAS1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 7 Conflicting · 17 Benign · 6 Benign/Likely benign · 75 Likely benign · 142 Uncertain significance

Full LAS1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 136

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 1

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 24

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

All LAS1L variants

Pathogenic 1

Pathogenic/Likely pathogenic 2

Likely pathogenic 4

Conflicting classifications of pathogenicity 7

Benign 17

Benign/Likely benign 6

  • c.1927+9del Multiple submitters Wilson-Turner syndrome
  • p.596DDE[1] Multiple submitters Wilson-Turner syndrome
  • p.Ala447= Multiple submitters Wilson-Turner syndrome
  • p.Gly631= Multiple submitters Wilson-Turner syndrome
  • p.Pro687= Multiple submitters Wilson-Turner syndrome
  • p.Thr423= Multiple submitters Wilson-Turner syndrome

Likely benign 75

Uncertain significance 142