Sugi Variant

Sugi Variant/REEP2

REEP2 — 148 ClinVar variants

All ClinVar germline REEP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 10 Benign · 3 Benign/Likely benign · 62 Likely benign · 64 Uncertain significance

Full REEP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 2

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

Predictors lean, ClinVar uncertain 43

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

Predictors split 10

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

All REEP2 variants

Pathogenic 4

  • p.Met40Arg Multiple submitters hereditary spastic paraplegia 72
  • c.105+3G>T No assertion criteria spastic paraplegia 72b, autosomal recessive
  • p.Phe72Tyr No assertion criteria spastic paraplegia 72b, autosomal recessive
  • p.Val36Glu No assertion criteria hereditary spastic paraplegia 72

Likely pathogenic 3

  • c.696+2T>G Single submitter hereditary spastic paraplegia 72
  • p.Arg111Ter Single submitter hereditary spastic paraplegia 72
  • p.Arg175Ter Single submitter hereditary spastic paraplegia 72

Conflicting classifications of pathogenicity 2

Benign 10

Benign/Likely benign 3

  • c.696+13G>A Multiple submitters hereditary spastic paraplegia 72
  • p.Ala26= Multiple submitters hereditary spastic paraplegia 72
  • p.Glu162= Multiple submitters hereditary spastic paraplegia 72

Likely benign 62

  • c.105+49G>A Multiple submitters
  • c.33-65G>A Multiple submitters
  • c.*13C>T Multiple submitters
  • p.Leu68= Multiple submitters hereditary spastic paraplegia 72
  • p.Ser180= Multiple submitters hereditary spastic paraplegia 72
  • p.Thr55= Multiple submitters hereditary spastic paraplegia 72
  • c.105+13C>T Single submitter hereditary spastic paraplegia 72
  • c.105+16T>C Single submitter hereditary spastic paraplegia 72
  • c.105+7G>A Single submitter hereditary spastic paraplegia 72
  • c.182+11G>C Single submitter hereditary spastic paraplegia 72
  • c.182+13G>A Single submitter hereditary spastic paraplegia 72
  • c.183-13C>T Single submitter hereditary spastic paraplegia 72
  • c.183-15C>T Single submitter hereditary spastic paraplegia 72
  • c.183-16G>A Single submitter hereditary spastic paraplegia 72
  • c.183-20G>A Single submitter hereditary spastic paraplegia 72
  • c.303+12C>G Single submitter hereditary spastic paraplegia 72
  • c.304-4A>C Single submitter hereditary spastic paraplegia 72
  • c.33-10G>C Single submitter hereditary spastic paraplegia 72
  • c.33-17C>T Single submitter hereditary spastic paraplegia 72
  • c.33-265G>A Single submitter
  • c.33-5C>T Single submitter hereditary spastic paraplegia 72
  • c.417+10G>A Single submitter hereditary spastic paraplegia 72
  • c.418-13G>A Single submitter hereditary spastic paraplegia 72
  • c.418-16G>A Single submitter hereditary spastic paraplegia 72
  • c.418-4C>T Single submitter hereditary spastic paraplegia 72
  • c.565+16G>A Single submitter hereditary spastic paraplegia 72
  • c.565+18G>T Single submitter hereditary spastic paraplegia 72
  • c.566-11C>T Single submitter hereditary spastic paraplegia 72
  • c.566-12C>T Single submitter hereditary spastic paraplegia 72
  • c.696+11T>A Single submitter hereditary spastic paraplegia 72
  • c.696+8C>T Single submitter hereditary spastic paraplegia 72
  • c.696+9A>C Single submitter hereditary spastic paraplegia 72
  • c.697-11T>C Single submitter hereditary spastic paraplegia 72
  • p.Ala137= Single submitter hereditary spastic paraplegia 72
  • p.Ala164= Single submitter hereditary spastic paraplegia 72
  • p.Ala228= Single submitter hereditary spastic paraplegia 72
  • p.Arg120= Single submitter hereditary spastic paraplegia 72
  • p.Arg149= Single submitter hereditary spastic paraplegia 72
  • p.Arg242= Single submitter hereditary spastic paraplegia 72
  • p.Asn127= Single submitter hereditary spastic paraplegia 72
  • p.Asp104= Single submitter hereditary spastic paraplegia 72
  • p.Asp161= Single submitter
  • p.Asp163= Single submitter hereditary spastic paraplegia 72
  • p.Asp171= Single submitter hereditary spastic paraplegia 72
  • p.Gly249= Single submitter hereditary spastic paraplegia 72
  • p.Gly251= Single submitter hereditary spastic paraplegia 72
  • p.Ile107= Single submitter hereditary spastic paraplegia 72
  • p.Ile159= Single submitter hereditary spastic paraplegia 72
  • p.Ile185= Single submitter hereditary spastic paraplegia 72
  • p.Ile70= Single submitter
  • p.Leu144= Single submitter hereditary spastic paraplegia 72
  • p.Leu167= Single submitter hereditary spastic paraplegia 72
  • p.Leu17= Single submitter hereditary spastic paraplegia 72
  • p.Phe91= Single submitter hereditary spastic paraplegia 72
  • p.Pro202= Single submitter hereditary spastic paraplegia 72
  • p.Pro63= Single submitter hereditary spastic paraplegia 72
  • p.Ser85= Single submitter hereditary spastic paraplegia 72
  • p.Thr108= Single submitter hereditary spastic paraplegia 72
  • p.Thr53= Single submitter hereditary spastic paraplegia 72
  • p.Val143= Single submitter hereditary spastic paraplegia 72
  • p.Val2= Single submitter
  • p.Val44= Single submitter hereditary spastic paraplegia 72

Uncertain significance 64