Sugi Variant

Sugi Variant/MLPH

MLPH — 271 ClinVar variants

All ClinVar germline MLPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 12 Conflicting · 56 Benign · 16 Benign/Likely benign · 73 Likely benign · 103 Uncertain significance

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

⚑ Evidence disagreements 103

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 agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 90

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

Predictors split 5

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

All MLPH variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

  • p.Arg35Gln Multiple submitters Griscelli syndrome type 3
  • p.Arg35Trp Multiple submitters MLPH-related disorder

Likely pathogenic 5

Conflicting classifications of pathogenicity 12

Benign 56

Benign/Likely benign 16

Likely benign 73

Uncertain significance 103