Sugi Variant

Sugi Variant/EXOC7

EXOC7 — 128 ClinVar variants

All ClinVar germline EXOC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

5 Pathogenic · 3 Benign · 1 Benign/Likely benign · 21 Likely benign · 98 Uncertain significance

Full EXOC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 64

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

Predictors split 29

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

All EXOC7 variants

Pathogenic 5

  • c.809-2A>G Single submitter neurodevelopmental disorder with seizures and brain atrophy
  • p.Gln349Ter Single submitter Inborn genetic diseases
  • p.Ala523Thr No assertion criteria neurodevelopmental disorder with seizures and brain atrophy
  • p.Asp353_Leu357del No assertion criteria neurodevelopmental disorder with seizures and brain atrophy
  • p.Ser48del No assertion criteria neurodevelopmental disorder with seizures and brain atrophy

Benign 3

Benign/Likely benign 1

Likely benign 21

Uncertain significance 98