Sugi Variant

Sugi Variant/GRM7

GRM7 — 309 ClinVar variants

All ClinVar germline GRM7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 3 Conflicting · 22 Benign · 7 Benign/Likely benign · 112 Likely benign · 154 Uncertain significance

Full GRM7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 2

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 30

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

All GRM7 variants

Pathogenic 7

  • p.Arg516Ter Single submitter
  • p.Glu394Lys Single submitter Global developmental delay
  • p.Ile154Thr Single submitter neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
  • p.Lys528Ter Single submitter neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
  • p.Tyr114Ter Single submitter neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
  • p.Glu891Lys No assertion criteria neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities ⚠
  • p.Trp586Ter No assertion criteria neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

Pathogenic/Likely pathogenic 2

  • p.Arg658Trp No assertion criteria Global developmental delay
  • p.Thr675Lys No assertion criteria Global developmental delay

Likely pathogenic 2

  • p.Arg659Ter Single submitter neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
  • p.Ser832Arg Single submitter neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

Conflicting classifications of pathogenicity 3

Benign 22

Benign/Likely benign 7

Likely benign 112

Uncertain significance 154