Sugi Variant

Sugi Variant/PXDN

PXDN — 599 ClinVar variants

All ClinVar germline PXDN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →

17 Pathogenic · 10 Likely pathogenic · 6 Conflicting · 81 Benign · 26 Benign/Likely benign · 201 Likely benign · 258 Uncertain significance

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

⚑ Evidence disagreements 236

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 4

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

Predictors lean, ClinVar uncertain 182

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 182

Predictors split 50

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

All PXDN variants

Pathogenic 17

  • p.Gln1362fs Multiple submitters anterior segment dysgenesis 7
  • c.1838-2A>G Single submitter glaucoma 3A
  • c.3609-1G>C Single submitter anterior segment dysgenesis 7
  • p.Arg1409delinsProTer Single submitter anterior segment dysgenesis 7
  • p.Arg643Ter Single submitter anterior segment dysgenesis 7
  • p.Arg785Ter Single submitter anterior segment dysgenesis 7
  • p.Gln942Ter Single submitter anterior segment dysgenesis 7
  • p.Gly700Ter Single submitter anterior segment dysgenesis 7
  • p.His784fs Single submitter anterior segment dysgenesis 7
  • p.Met1Val Single submitter anterior segment dysgenesis 7
  • p.Ser759Leu Single submitter anterior segment dysgenesis 7
  • p.Val233fs Single submitter anterior segment dysgenesis 7
  • p.Arg341Ter No assertion criteria anterior segment dysgenesis 7
  • p.Arg880Cys No assertion criteria anterior segment dysgenesis 7
  • p.Cys857fs No assertion criteria anterior segment dysgenesis 7
  • p.Leu792fs No assertion criteria anterior segment dysgenesis 7
  • p.Pro370fs No assertion criteria anterior segment dysgenesis 7

Likely pathogenic 10

  • c.1018+1G>A Single submitter anterior segment dysgenesis 7
  • c.3743+2T>G Single submitter anterior segment dysgenesis 7
  • p.Arg1119fs Single submitter anterior segment dysgenesis 7
  • p.Arg1244Ter Single submitter PXDN-related disorder
  • p.Arg1322fs Single submitter anterior segment dysgenesis 7
  • p.Asn865fs Single submitter PXDN-related disorder
  • p.Cys546fs Single submitter anterior segment dysgenesis 7
  • p.Gln1264Ter Single submitter
  • p.Gly7fs Single submitter anterior segment dysgenesis 7
  • p.Gln820Arg No assertion criteria anterior segment dysgenesis

Conflicting classifications of pathogenicity 6

Benign 81

Benign/Likely benign 26

  • c.1018+9C>T Multiple submitters anterior segment dysgenesis 7
  • c.1680+19G>A Multiple submitters anterior segment dysgenesis 7
  • c.4321-16C>T Multiple submitters anterior segment dysgenesis 7
  • c.488+8G>C Multiple submitters anterior segment dysgenesis 7
  • c.849-8C>T Multiple submitters anterior segment dysgenesis 7
  • p.Ala1064Thr Multiple submitters anterior segment dysgenesis 7
  • p.Ala1066= Multiple submitters anterior segment dysgenesis 7
  • p.Ala414= Multiple submitters anterior segment dysgenesis 7
  • p.Gly1363Glu Multiple submitters anterior segment dysgenesis 7
  • p.Ile464= Multiple submitters anterior segment dysgenesis 7
  • p.Leu1217= Multiple submitters
  • p.Leu91= Multiple submitters Inborn genetic diseases
  • p.Pro1055= Multiple submitters anterior segment dysgenesis 7
  • p.Pro1097= Multiple submitters anterior segment dysgenesis 7
  • p.Pro1479= Multiple submitters anterior segment dysgenesis 7
  • p.Pro37= Multiple submitters anterior segment dysgenesis 7
  • p.Pro371= Multiple submitters anterior segment dysgenesis 7
  • p.Pro460= Multiple submitters anterior segment dysgenesis 7
  • p.Pro552= Multiple submitters anterior segment dysgenesis 7
  • p.Ser602Leu Multiple submitters anterior segment dysgenesis 7
  • p.Thr1375Ile Multiple submitters anterior segment dysgenesis 7
  • p.Thr177= Multiple submitters anterior segment dysgenesis 7
  • p.Thr307= Multiple submitters anterior segment dysgenesis 7
  • p.Thr449= Multiple submitters anterior segment dysgenesis 7
  • p.Thr90= Multiple submitters anterior segment dysgenesis 7
  • p.Ile717= No assertion criteria

Likely benign 201

Uncertain significance 258