Sugi Variant

Sugi Variant/SORD

SORD — 144 ClinVar variants

All ClinVar germline SORD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 6 Conflicting · 35 Benign · 23 Likely benign · 69 Uncertain significance

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

⚑ Evidence disagreements 65

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 4

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

Predictors lean, ClinVar uncertain 37

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

Predictors split 23

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

All SORD variants

Pathogenic 5

  • c.908+1G>C Single submitter
  • p.Arg100Ter Single submitter
  • p.Arg38fs Single submitter
  • p.Arg299Ter No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 8
  • p.Leu284Pro No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 8

Pathogenic/Likely pathogenic 3

  • p.Ala153Asp Multiple submitters Inborn genetic diseases
  • p.Ala253fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ala259Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 8 ⚠

Likely pathogenic 3

  • c.786+5G>A Single submitter
  • p.Tyr25fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 8
  • p.Ala121Pro No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 8

Conflicting classifications of pathogenicity 6

  • p.Arg110Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 8
  • p.Gly185Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 8 ⚠
  • p.Gly341Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 8
  • p.Ile61Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys64Arg Single submitter ⚠
  • p.Pro244Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 8 ⚠

Benign 35

Likely benign 23

Uncertain significance 69