Sugi Variant

Sugi Variant/GRM1

GRM1 — 456 ClinVar variants

All ClinVar germline GRM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 9 Conflicting · 41 Benign · 29 Benign/Likely benign · 123 Likely benign · 238 Uncertain significance

Full GRM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 201

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 3

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

Predictors lean, ClinVar uncertain 157

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 157

Predictors split 41

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

All GRM1 variants

Pathogenic 8

  • p.Arg297Ter Single submitter autosomal recessive spinocerebellar ataxia 13
  • p.Asn572fs Single submitter autosomal recessive spinocerebellar ataxia 13
  • p.Cys746Ter Single submitter autosomal recessive spinocerebellar ataxia 13
  • p.Phe560fs Single submitter
  • p.Gly1056fs No assertion criteria spinocerebellar ataxia 44
  • p.Leu454Phe No assertion criteria autosomal recessive spinocerebellar ataxia 13
  • p.Thr824Arg No assertion criteria cerebellar ataxia
  • p.Tyr262Cys No assertion criteria spinocerebellar ataxia 44

Pathogenic/Likely pathogenic 1

  • p.Ala11fs Multiple submitters autosomal recessive spinocerebellar ataxia 13

Likely pathogenic 7

Conflicting classifications of pathogenicity 9

Benign 41

Benign/Likely benign 29

Likely benign 123

Uncertain significance 238