Sugi Variant

Sugi Variant/CSPP1

CSPP1 — 1258 ClinVar variants

All ClinVar germline CSPP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →

89 Pathogenic · 6 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 20 Conflicting · 55 Benign · 19 Benign/Likely benign · 455 Likely benign · 596 Uncertain significance

Full CSPP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

All CSPP1 variants

Pathogenic 89

Pathogenic/Likely pathogenic 6

  • c.1187+1G>A Multiple submitters Joubert syndrome 21
  • c.-69C>T Multiple submitters Joubert syndrome 21
  • p.Arg15Ter Multiple submitters Joubert syndrome 21
  • p.Arg369Ter Multiple submitters Joubert syndrome 21
  • p.Leu606fs Multiple submitters Joubert syndrome 21
  • p.Tyr740Ter Multiple submitters Joubert syndrome 21

Likely pathogenic 18

Conflicting classifications of pathogenicity 20

Benign 55

Benign/Likely benign 19

Likely benign 455

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 596

Showing the top 300 by review status; the full set is in the sitemap.