Sugi Variant

Sugi Variant/RDX

RDX — 301 ClinVar variants

All ClinVar germline RDX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 12 Conflicting · 17 Benign · 2 Benign/Likely benign · 64 Likely benign · 182 Uncertain significance

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

⚑ Evidence disagreements 110

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 4

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

Predictors lean, ClinVar uncertain 80

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

Predictors split 26

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

All RDX variants

Pathogenic 12

  • p.Lys438fs Multiple submitters Rare genetic deafness
  • p.Trp242fs Multiple submitters autosomal recessive nonsyndromic hearing loss 24
  • c.551+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Ala449fs Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Arg370Ter Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Asn74fs Single submitter
  • p.Glu311fs Single submitter
  • p.His161_Lys162insTer Single submitter
  • p.Trp43Ter Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Tyr228fs Single submitter
  • p.Ala469fs No assertion criteria autosomal recessive nonsyndromic hearing loss 24
  • p.Gln155Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 24

Pathogenic/Likely pathogenic 1

  • p.Ile359fs Multiple submitters autosomal recessive nonsyndromic hearing loss 24

Likely pathogenic 11

  • c.467+1G>A Single submitter
  • c.698+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 24
  • c.-64-1215_12+348del Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Arg171fs Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Arg379Ter Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Arg381Ter Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Arg394Ter Single submitter nonsyndromic genetic hearing loss
  • p.Asp578Asn Single submitter RDX-related disorder ⚠
  • p.Gln304Ter Single submitter
  • p.Gln99Ter Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Pro472fs Single submitter autosomal recessive nonsyndromic hearing loss 24

Conflicting classifications of pathogenicity 12

  • c.1345-7T>C Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Ala264Pro Single submitter ⚠
  • p.Ala496Val Single submitter autosomal recessive nonsyndromic hearing loss 24 ⚠
  • p.Asp490Asn Single submitter ⚠
  • p.Gln353= Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Ile332Thr Single submitter ⚠
  • p.Ile428Val Single submitter Inborn genetic diseases
  • p.Pro118= Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Pro2= Single submitter autosomal recessive nonsyndromic hearing loss 24
  • p.Pro259= Single submitter
  • p.Pro471= Single submitter
  • p.Ser510= Single submitter autosomal recessive nonsyndromic hearing loss 24

Benign 17

Benign/Likely benign 2

Likely benign 64

Uncertain significance 182