Sugi Variant

Sugi Variant/GRIA4

GRIA4 — 321 ClinVar variants

All ClinVar germline GRIA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 6 Conflicting · 5 Benign · 2 Benign/Likely benign · 69 Likely benign · 228 Uncertain significance

Full GRIA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 190

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.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 137

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

Predictors split 47

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

All GRIA4 variants

Pathogenic 2

  • p.Arg697Gln Single submitter neurodevelopmental disorder with or without seizures and gait abnormalities ⚠
  • p.Ala640Ser No assertion criteria neurodevelopmental disorder with or without seizures and gait abnormalities

Pathogenic/Likely pathogenic 2

  • p.Ala643Gly No assertion criteria neurodevelopmental disorder with or without seizures and gait abnormalities
  • p.Thr639Ser No assertion criteria neurodevelopmental disorder with or without seizures and gait abnormalities

Likely pathogenic 7

  • p.Ala640Thr Single submitter
  • p.Ala644Val Single submitter neurodevelopmental disorder with or without seizures and gait abnormalities
  • p.Arg697Pro Single submitter neurodevelopmental disorder with or without seizures and gait abnormalities ⚠
  • p.Asn641Asp Single submitter Inborn genetic diseases
  • p.His114Arg Single submitter
  • p.Trp179Ter Single submitter neurodevelopmental disorder with or without seizures and gait abnormalities
  • p.Arg737Ter No assertion criteria obesity disorder

Conflicting classifications of pathogenicity 6

Benign 5

Benign/Likely benign 2

Likely benign 69

Uncertain significance 228