Sugi Variant

Sugi Variant/PATL2

PATL2 — 103 ClinVar variants

All ClinVar germline PATL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 1 Conflicting · 4 Benign · 15 Likely benign · 63 Uncertain significance

Full PATL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 3

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 48

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

Predictors split 12

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

All PATL2 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

Likely pathogenic 12

Conflicting classifications of pathogenicity 1

Benign 4

  • p.Leu517= Multiple submitters
  • p.Met88Val Multiple submitters oocyte maturation defect 4
  • p.Leu20Pro No assertion criteria PATL2-related disorder
  • p.Val272Met No assertion criteria PATL2-related disorder

Likely benign 15

Uncertain significance 63