Sugi Variant

Sugi Variant/MVD

MVD — 123 ClinVar variants

All ClinVar germline MVD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 18 Likely benign · 92 Uncertain significance

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

⚑ Evidence disagreements 90

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 lean, ClinVar uncertain 57

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

Predictors split 32

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

All MVD variants

Pathogenic 4

  • p.Phe249Ser Multiple submitters porokeratosis 7, multiple types
  • c.1013+1G>T Single submitter porokeratosis 7, multiple types
  • c.141+1del Single submitter porokeratosis 7, multiple types
  • p.Asn292Ser Single submitter porokeratosis 7, multiple types ⚠

Likely pathogenic 3

  • c.1014-1G>T Single submitter porokeratosis 7, multiple types
  • c.71-2A>C No assertion criteria MVD-related disorder
  • p.Phe271fs No assertion criteria linear porokeratosis

Conflicting classifications of pathogenicity 1

Benign 4

  • p.Arg78= Multiple submitters porokeratosis 7, multiple types
  • p.Pro77= Multiple submitters
  • c.1014-8T>G No assertion criteria MVD-related disorder
  • p.Arg154Trp No assertion criteria MVD-related disorder ⚠

Benign/Likely benign 1

Likely benign 18

Uncertain significance 92