Sugi Variant

Sugi Variant/PRG4

PRG4 — 400 ClinVar variants

All ClinVar germline PRG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

30 Pathogenic · 7 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 8 Conflicting · 4 Benign · 6 Benign/Likely benign · 112 Likely benign · 218 Uncertain significance

Full PRG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 140

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

Predictors split 78

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

All PRG4 variants

Pathogenic 30

  • p.Asn1084_Ser1085insTer Multiple submitters PRG4-related disorder
  • p.Glu646fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys441fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys939fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Pro637fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Arg1284fs Single submitter
  • p.Asn1221fs Single submitter Inborn genetic diseases
  • p.Glu1003fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Glu101Ter Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Glu1187fs Single submitter
  • p.Glu567fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Gly1283fs Single submitter
  • p.Lys1000fs Single submitter
  • p.Lys1008fs Single submitter Inborn genetic diseases
  • p.Lys1230fs Single submitter PRG4-related disorder
  • p.Lys379fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Pro693fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Thr399fs Single submitter PRG4-related disorder
  • p.Thr965fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Val1163fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Arg1306_Ser1311del No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Glu638fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys1047fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys1093fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys739Ter No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys936fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys947fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Ser1397Ter No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Tyr1367Ter No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Val284fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Pathogenic/Likely pathogenic 7

  • p.Arg1166Ter Multiple submitters PRG4-related disorder
  • p.Arg1302fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys1253Ter Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Ser1355Ter Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Thr1155fs Multiple submitters PRG4-related disorder
  • p.Trp3fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Val1088fs Multiple submitters camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Likely pathogenic 15

  • c.3793+1G>A Single submitter PRG4-related disorder
  • c.3793+2dup Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • c.598+1G>T Single submitter
  • p.Ala1246fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Ala933fs Single submitter PRG4-related disorder
  • p.Arg922fs Single submitter Abnormality of the skeletal system
  • p.Glu152Ter Single submitter PRG4-related disorder
  • p.Gly1098fs Single submitter PRG4-related disorder
  • p.Leu11fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Leu321Ter Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Leu924fs Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Lys1338fs Single submitter
  • p.Thr625fs Single submitter PRG4-related disorder
  • p.Trp1343Ter Single submitter camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • p.Thr737fs No assertion criteria camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Conflicting classifications of pathogenicity 8

Benign 4

Benign/Likely benign 6

Likely benign 112

Uncertain significance 218