Sugi Variant

Sugi Variant/GABBR1

GABBR1 — 171 ClinVar variants

All ClinVar germline GABBR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 1 Conflicting · 3 Benign · 13 Likely benign · 146 Uncertain significance

Full GABBR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 95

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

Predictors split 26

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

All GABBR1 variants

Pathogenic/Likely pathogenic 1

  • p.Gly531Ser Multiple submitters GABBR1-related neurodevelopmental disorder

Likely pathogenic 7

  • p.Ala348Pro Single submitter neurofibromatosis type 1
  • p.Ala397Val Single submitter neurodevelopmental disorder with language delay and variable cognitive abnormalities
  • p.Ala535Thr Single submitter Global developmental delay
  • p.Ala535Val Single submitter neurodevelopmental disorder with language delay and variable cognitive abnormalities
  • p.Glu368Asp Single submitter Global developmental delay
  • p.Gly673Asp Single submitter Global developmental delay
  • p.Leu849Pro Single submitter neurodevelopmental disorder with language delay and variable cognitive abnormalities

Conflicting classifications of pathogenicity 1

  • p.Pro222Leu Single submitter neurodevelopmental disorder with language delay and variable cognitive abnormalities ⚠

Benign 3

Likely benign 13

Uncertain significance 146