Sugi Variant

Sugi Variant/GLRA2

GLRA2 — 96 ClinVar variants

All ClinVar germline GLRA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

4 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 16 Likely benign · 66 Uncertain significance

Full GLRA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 1

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 7

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

All GLRA2 variants

Pathogenic 4

  • p.Thr296Met Multiple submitters GLRA2-related disorders
  • p.Arg153Gln No assertion criteria intellectual developmental disorder, X-linked, syndromic, Pilorge type
  • p.Arg350Leu No assertion criteria intellectual developmental disorder, X-linked, syndromic, Pilorge type ⚠
  • p.Asn136Ser No assertion criteria intellectual developmental disorder, X-linked, syndromic, Pilorge type

Likely pathogenic 6

  • p.Arg165Thr Single submitter intellectual developmental disorder, X-linked, syndromic, Pilorge type
  • p.Asp131Gly Single submitter intellectual developmental disorder, X-linked, syndromic, Pilorge type
  • p.Cys172fs Single submitter
  • p.Ile259Met Single submitter intellectual developmental disorder, X-linked, syndromic, Pilorge type
  • p.Arg445Gln No assertion criteria ⚠
  • p.Phe47Ser No assertion criteria

Conflicting classifications of pathogenicity 1

  • p.Pro396Thr Single submitter intellectual developmental disorder, X-linked, syndromic, Pilorge type ⚠

Benign 2

Benign/Likely benign 1

Likely benign 16

Uncertain significance 66