Sugi Variant

Sugi Variant/UFSP2

UFSP2 — 110 ClinVar variants

All ClinVar germline UFSP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

4 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 4 Benign · 5 Benign/Likely benign · 19 Likely benign · 73 Uncertain significance

Full UFSP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 55

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

Predictors split 13

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

All UFSP2 variants

Pathogenic 4

  • p.Asp426Ala Multiple submitters spondyloepimetaphyseal dysplasia, di rocco type
  • p.His37fs Single submitter developmental and epileptic encephalopathy 106
  • p.Tyr290His Single submitter UFSP2-related disorder
  • p.Cys302Ser No assertion criteria spondyloepimetaphyseal dysplasia, di rocco type

Likely pathogenic 4

  • p.His428Arg Multiple submitters spondyloepimetaphyseal dysplasia, di rocco type
  • p.Asn459Thr Single submitter developmental dysplasia of the hip
  • p.Asp426Gly Single submitter spondyloepimetaphyseal dysplasia, di rocco type
  • p.Tyr458Cys Single submitter Cerebral visual impairment and intellectual disability

Conflicting classifications of pathogenicity 1

Benign 4

  • c.333+11T>C Multiple submitters spondyloepimetaphyseal dysplasia, di rocco type
  • c.-33C>T Multiple submitters spondyloepimetaphyseal dysplasia, di rocco type
  • p.Ala432= Multiple submitters
  • p.Ser79= Multiple submitters

Benign/Likely benign 5

Likely benign 19

Uncertain significance 73