Sugi Variant

Sugi Variant/SSBP1

SSBP1 — 27 ClinVar variants

All ClinVar germline SSBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 4 Likely benign · 19 Uncertain significance

Full SSBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 17

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 2

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

Predictors lean, ClinVar uncertain 11

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

Predictors split 4

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

All SSBP1 variants

Pathogenic 3

  • p.Arg107Gln Multiple submitters optic atrophy 13 with retinal and foveal abnormalities ⚠
  • p.Arg38Gln Single submitter cone-rod dystrophy
  • p.Ser141Asn No assertion criteria optic atrophy 13 with retinal and foveal abnormalities ⚠

Likely pathogenic 1

  • p.Gly40Val Single submitter optic atrophy 13 with retinal and foveal abnormalities

Likely benign 4

Uncertain significance 19