Sugi Variant

Sugi Variant/IL17RD

IL17RD — 304 ClinVar variants

All ClinVar germline IL17RD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 8 Conflicting · 29 Benign · 7 Benign/Likely benign · 81 Likely benign · 174 Uncertain significance

Full IL17RD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 4

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 129

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

Predictors split 33

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

All IL17RD variants

Pathogenic 2

  • p.Pro577Gln No assertion criteria Hypogonadotropic hypogonadism 18 with anosmia ⚠
  • p.Ser468Leu No assertion criteria Hypogonadotropic hypogonadism 18 with anosmia ⚠

Likely pathogenic 3

  • p.Ala453Val Single submitter hypogonadotropic hypogonadism 18 with or without anosmia ⚠
  • p.Gly226Ser Single submitter arteriovenous malformations of the brain ⚠
  • p.Trp200Ter Single submitter Delayed puberty

Conflicting classifications of pathogenicity 8

Benign 29

Benign/Likely benign 7

Likely benign 81

Uncertain significance 174