Sugi Variant

Sugi Variant/RSRC1

RSRC1 — 79 ClinVar variants

All ClinVar germline RSRC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

7 Pathogenic · 5 Likely pathogenic · 1 Benign · 8 Likely benign · 58 Uncertain significance

Full RSRC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 52

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 lean, ClinVar uncertain 36

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

Predictors split 16

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

All RSRC1 variants

Pathogenic 7

  • c.194+1G>A Single submitter Inborn genetic diseases
  • c.495-2A>G Single submitter Inborn genetic diseases
  • p.Arg69Ter Single submitter intellectual developmental disorder, autosomal recessive 70
  • p.Arg90Ter Single submitter intellectual developmental disorder, autosomal recessive 70
  • c.532-1G>A No assertion criteria intellectual developmental disorder, autosomal recessive 70
  • p.Glu150fs No assertion criteria intellectual developmental disorder, autosomal recessive 70
  • p.Met1Ile No assertion criteria intellectual developmental disorder, autosomal recessive 70

Likely pathogenic 5

Benign 1

  • p.Arg95Gly No assertion criteria RSRC1-related disorder

Likely benign 8

Uncertain significance 58