Sugi Variant

Sugi Variant/GRIA3

GRIA3 — 631 ClinVar variants

All ClinVar germline GRIA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 37 Conflicting · 40 Benign · 16 Benign/Likely benign · 215 Likely benign · 288 Uncertain significance

Full GRIA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 agree, ClinVar conflicts 24

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

Predictors lean, ClinVar uncertain 175

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 175

Predictors split 56

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

All GRIA3 variants

Pathogenic 14

  • p.Ala653Ser Single submitter syndromic X-linked intellectual disability 94
  • p.Arg423fs Single submitter Inborn genetic diseases
  • p.Arg660Thr Single submitter GRIA3-related complex neurodevelopmental disorder
  • p.Glu787Lys Single submitter syndromic X-linked intellectual disability 94
  • p.Gly680Cys Single submitter syndromic X-linked intellectual disability 94
  • p.Gly833Arg Single submitter syndromic X-linked intellectual disability 94
  • p.Met661Thr Single submitter
  • p.Phe655Ser Single submitter syndromic X-linked intellectual disability 94
  • p.Pro485fs Single submitter syndromic X-linked intellectual disability 94
  • p.Ser522fs Single submitter
  • p.Ala615Val No assertion criteria syndromic X-linked intellectual disability 94
  • p.Arg631Ser No assertion criteria syndromic X-linked intellectual disability 94
  • p.Gly630Arg No assertion criteria syndromic X-linked intellectual disability 94
  • p.Met706Thr No assertion criteria syndromic X-linked intellectual disability 94

Pathogenic/Likely pathogenic 3

  • p.Ala650Val Multiple submitters syndromic X-linked intellectual disability 94
  • p.Arg216Ter Multiple submitters syndromic X-linked intellectual disability 94
  • p.Arg394Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 18

Conflicting classifications of pathogenicity 37

Benign 40

Benign/Likely benign 16

Likely benign 215

Uncertain significance 288