BLOC1S2 — 8 ClinVar variants
All ClinVar germline BLOC1S2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
8 Uncertain significance
Full BLOC1S2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLOC1S2 p.Ala4Val Uncertain significance Single submitter
- BLOC1S2 p.Ala5Val Uncertain significance Single submitter
- BLOC1S2 p.Asp14Val Uncertain significance Single submitter
- BLOC1S2 p.Glu39Asp Uncertain significance Single submitter
- BLOC1S2 p.Lys124Met Uncertain significance Single submitter
- BLOC1S2 p.Tyr136Asn Uncertain significance Single submitter
- BLOC1S2 p.Tyr63Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All BLOC1S2 variants
Uncertain significance 8
- p.Ala4Val Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Asp14Val Single submitter ⚠
- p.Glu39Asp Single submitter ⚠
- p.Glu55Asp Single submitter ⚠
- p.Lys124Met Single submitter ⚠
- p.Tyr136Asn Single submitter ⚠
- p.Tyr63Cys Single submitter ⚠