Sugi Variant

Sugi Variant/CECR2

CECR2 — 22 ClinVar variants

All ClinVar germline CECR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →

3 Likely pathogenic · 1 Conflicting · 11 Benign · 4 Likely benign · 3 Uncertain significance

Full CECR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 5

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 1

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

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.

Predictors lean, ClinVar uncertain 1

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

Predictors split 2

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

All CECR2 variants

Likely pathogenic 3

  • p.Arg607Ter Single submitter CECR2-related neurodevelopmental disorder
  • p.Gln1385Glu Single submitter CECR2-related neurodevelopmental disorder ⚠
  • p.Thr580fs Single submitter CECR2-related neurodevelopmental disorder

Conflicting classifications of pathogenicity 1

  • p.Arg761Ter Single submitter CECR2-related neurodevelopmental disorder ⚠

Benign 11

Likely benign 4

Uncertain significance 3