Sugi Variant

Sugi Variant/RSPH1

RSPH1 — 248 ClinVar variants

All ClinVar germline RSPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

12 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 5 Conflicting · 25 Benign · 15 Benign/Likely benign · 94 Likely benign · 86 Uncertain significance

Full RSPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 66

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

Predictors split 8

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

All RSPH1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 4

  • p.Leu188Ter Multiple submitters primary ciliary dyskinesia 24
  • p.Pro228fs Multiple submitters RSPH1-related disorder
  • p.Trp94Ter Multiple submitters primary ciliary dyskinesia
  • p.Tyr105Ter Multiple submitters RSPH1-related disorder

Likely pathogenic 7

  • c.365+1del Single submitter
  • c.365+2T>C Single submitter primary ciliary dyskinesia
  • c.502-1G>A Single submitter primary ciliary dyskinesia
  • c.54+2T>C Single submitter primary ciliary dyskinesia
  • p.Gln213Ter Single submitter primary ciliary dyskinesia 24
  • p.Gly126Ser Single submitter primary ciliary dyskinesia
  • p.Lys136fs Single submitter primary ciliary dyskinesia 24

Conflicting classifications of pathogenicity 5

Benign 25

Benign/Likely benign 15

  • c.365+13T>C Multiple submitters primary ciliary dyskinesia
  • c.501+7C>T Multiple submitters primary ciliary dyskinesia 24
  • c.573+9C>T Multiple submitters primary ciliary dyskinesia
  • c.727+11C>T Multiple submitters primary ciliary dyskinesia
  • c.727+15C>G Multiple submitters primary ciliary dyskinesia
  • c.727+19del Multiple submitters primary ciliary dyskinesia
  • c.877+7T>A Multiple submitters primary ciliary dyskinesia 24
  • p.Ala131= Multiple submitters primary ciliary dyskinesia 24
  • p.Ala150= Multiple submitters primary ciliary dyskinesia 24
  • p.Ala244Thr Multiple submitters primary ciliary dyskinesia
  • p.Asp237= Multiple submitters primary ciliary dyskinesia
  • p.Gln182= Multiple submitters primary ciliary dyskinesia
  • p.Gly245Arg Multiple submitters primary ciliary dyskinesia
  • p.Gly248Arg Multiple submitters primary ciliary dyskinesia 24
  • p.Leu217Trp Multiple submitters primary ciliary dyskinesia 24

Likely benign 94

Uncertain significance 86