Sugi Variant

Sugi Variant/SYNCRIP

SYNCRIP — 133 ClinVar variants

All ClinVar germline SYNCRIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Benign · 17 Likely benign · 110 Uncertain significance

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

⚑ Evidence disagreements 94

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 59

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

Predictors split 35

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

All SYNCRIP variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

Likely pathogenic 1

  • p.Pro147fs Single submitter SYNCRIP-associated neurodevelopmental disorder

Benign 1

Likely benign 17

Uncertain significance 110