Sugi Variant

Sugi Variant/BLOC1S5

BLOC1S5 — 54 ClinVar variants

All ClinVar germline BLOC1S5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 8 Likely benign · 39 Uncertain significance

Full BLOC1S5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 40

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 lean, ClinVar uncertain 26

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

Predictors split 14

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

All BLOC1S5 variants

Pathogenic 3

Likely pathogenic 4

  • c.326-2A>C Single submitter BLOC1S5-related disorder
  • p.Arg118Ter Single submitter Hermansky-Pudlak syndrome 11
  • p.Glu7Ter Single submitter Hermansky-Pudlak syndrome 11
  • p.Val52fs Single submitter Hermansky-Pudlak syndrome 11

Likely benign 8

Uncertain significance 39