Sugi Variant

Sugi Variant/OSMR

OSMR — 189 ClinVar variants

All ClinVar germline OSMR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 9 Conflicting · 11 Benign · 2 Benign/Likely benign · 38 Likely benign · 121 Uncertain significance

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

⚑ Evidence disagreements 118

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 5

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 99

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

Predictors split 7

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

All OSMR variants

Pathogenic 3

  • p.Asp647Val No assertion criteria amyloidosis, primary localized cutaneous, 1 ⚠
  • p.Gly618Ala No assertion criteria amyloidosis, primary localized cutaneous, 1 ⚠
  • p.Lys697Thr No assertion criteria amyloidosis, primary localized cutaneous, 1 ⚠

Pathogenic/Likely pathogenic 1

  • p.Pro694Leu Multiple submitters amyloidosis, primary localized cutaneous, 1 ⚠

Likely pathogenic 4

Conflicting classifications of pathogenicity 9

Benign 11

Benign/Likely benign 2

Likely benign 38

Uncertain significance 121