Sugi Variant

Sugi Variant/TSPAN7

TSPAN7 — 51 ClinVar variants

All ClinVar germline TSPAN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 9 Likely benign · 32 Uncertain significance

Full TSPAN7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 23

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 1

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

Predictors lean, ClinVar uncertain 17

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 TSPAN7 variants

Pathogenic 4

  • p.Tyr164Ter Single submitter intellectual disability, X-linked 58
  • p.Gly218Ter No assertion criteria intellectual disability, X-linked 58
  • p.Leu97fs No assertion criteria intellectual disability, X-linked 58
  • p.Val191fs No assertion criteria intellectual disability, X-linked 58

Likely pathogenic 1

  • c.271-1G>T Single submitter intellectual disability, X-linked 58

Conflicting classifications of pathogenicity 1

  • p.Pro172His Single submitter History of neurodevelopmental disorder ⚠

Benign 3

Benign/Likely benign 1

  • p.Ala79= Multiple submitters intellectual disability, X-linked 58

Likely benign 9

Uncertain significance 32