Sugi Variant

Sugi Variant/GRIK2

GRIK2 — 329 ClinVar variants

All ClinVar germline GRIK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

4 Pathogenic · 12 Likely pathogenic · 8 Conflicting · 11 Benign · 3 Benign/Likely benign · 69 Likely benign · 222 Uncertain significance

Full GRIK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 143

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 GRIK2 variants

Pathogenic 4

  • p.Ala657Thr Multiple submitters Inborn genetic diseases
  • p.Thr660Lys Single submitter GRIK2-related neurodevelopmental disorder
  • p.Arg198Ter No assertion criteria intellectual disability, autosomal recessive 6
  • p.Thr660Arg No assertion criteria neurodevelopmental disorder with impaired language and ataxia and with or without seizures

Likely pathogenic 12

Conflicting classifications of pathogenicity 8

Benign 11

Benign/Likely benign 3

Likely benign 69

Uncertain significance 222