Sugi Variant

Sugi Variant/CRIPT

CRIPT — 85 ClinVar variants

All ClinVar germline CRIPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

6 Pathogenic · 4 Likely pathogenic · 11 Benign · 31 Likely benign · 33 Uncertain significance

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

⚑ Evidence disagreements 31

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 lean, ClinVar uncertain 18

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

Predictors split 13

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

All CRIPT variants

Pathogenic 6

  • c.-422_17-582del Single submitter Rothmund-Thomson syndrome type 3
  • p.Cys3fs Single submitter Rothmund-Thomson syndrome type 3
  • p.Tyr50Ter Single submitter
  • p.Ala45fs No assertion criteria Rothmund-Thomson syndrome type 3
  • p.Cys76Tyr No assertion criteria Rothmund-Thomson syndrome type 3
  • p.Phe47fs No assertion criteria Rothmund-Thomson syndrome type 3

Likely pathogenic 4

  • c.83-1G>A Multiple submitters Fetal anomalies with a likely genetic cause
  • c.82+1G>A Single submitter
  • p.Cys3Tyr Single submitter Rothmund-Thomson syndrome type 3
  • p.Cys58Ter Single submitter Rothmund-Thomson syndrome type 3

Benign 11

Likely benign 31

Uncertain significance 33