Sugi Variant

Sugi Variant/DSCAM

DSCAM — 330 ClinVar variants

All ClinVar germline DSCAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 16 Benign · 6 Benign/Likely benign · 80 Likely benign · 220 Uncertain significance

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

⚑ Evidence disagreements 218

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.

Predictors lean, ClinVar uncertain 138

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

Predictors split 79

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

All DSCAM variants

Pathogenic 4

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

Benign 16

Benign/Likely benign 6

Likely benign 80

Uncertain significance 220