Sugi Variant

Sugi Variant/RLIM

RLIM — 167 ClinVar variants

All ClinVar germline RLIM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

3 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 3 Conflicting · 4 Benign · 2 Benign/Likely benign · 31 Likely benign · 114 Uncertain significance

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

⚑ Evidence disagreements 111

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 2

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.

Predictors lean, ClinVar uncertain 69

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

Predictors split 37

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

All RLIM variants

Pathogenic 3

  • p.Tyr356Cys Single submitter Global developmental delay ⚠
  • p.Arg599Cys No assertion criteria intellectual disability, X-linked 61
  • p.Pro587Arg No assertion criteria intellectual disability, X-linked 61

Pathogenic/Likely pathogenic 3

  • p.Arg365Cys Multiple submitters intellectual disability, X-linked 61 ⚠
  • p.Arg387Cys Multiple submitters Inborn genetic diseases
  • p.Asp598Asn Multiple submitters intellectual disability, X-linked 61

Likely pathogenic 7

Conflicting classifications of pathogenicity 3

  • p.Pro75Ala Single submitter intellectual disability, X-linked 61 ⚠
  • p.Ser276Pro Single submitter intellectual disability, X-linked 61 ⚠
  • p.Tyr44Cys Single submitter intellectual disability, X-linked 61 ⚠

Benign 4

Benign/Likely benign 2

Likely benign 31

Uncertain significance 114