Sugi Variant

Sugi Variant/SYP

SYP — 102 ClinVar variants

All ClinVar germline SYP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

3 Pathogenic · 7 Likely pathogenic · 6 Conflicting · 1 Benign · 2 Benign/Likely benign · 23 Likely benign · 60 Uncertain significance

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

⚑ Evidence disagreements 54

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 2

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 11

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

All SYP variants

Pathogenic 3

  • p.Asp195fs Single submitter intellectual disability, X-linked 96
  • p.Asn59_Lys60delinsLysTer No assertion criteria intellectual disability, X-linked 96
  • p.Thr92fs No assertion criteria intellectual disability, X-linked 96

Likely pathogenic 7

  • c.103-1G>A Single submitter intellectual disability, X-linked 96
  • c.615+2T>C Single submitter intellectual disability, X-linked 96
  • p.Asp277fs Single submitter intellectual disability, X-linked 96
  • p.Gln292Ter Single submitter
  • p.Lys242fs Single submitter
  • p.Met1Thr Single submitter intellectual disability, X-linked 96
  • p.Trp228Ter Single submitter Neurodevelopmental delay

Conflicting classifications of pathogenicity 6

Benign 1

  • p.Ala104= Single submitter Inborn genetic diseases

Benign/Likely benign 2

Likely benign 23

Uncertain significance 60