Sugi Variant

Sugi Variant/SNCA

SNCA — 167 ClinVar variants

All ClinVar germline SNCA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 27 Benign · 5 Benign/Likely benign · 44 Likely benign · 78 Uncertain significance

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

⚑ Evidence disagreements 33

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 3

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

Predictors lean, ClinVar uncertain 22

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

Predictors split 7

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

All SNCA variants

Pathogenic 4

  • p.Ala53Glu Multiple submitters SNCA-related disorder ⚠
  • p.Ala53Thr Multiple submitters SNCA-related disorder ⚠
  • p.Glu46Lys Single submitter autosomal dominant Parkinson disease 1
  • p.Gly51Asp Single submitter autosomal dominant Parkinson disease 1

Likely pathogenic 1

  • p.Ala30Pro Single submitter autosomal dominant Parkinson disease 1

Conflicting classifications of pathogenicity 8

  • c.*1047T>G Single submitter Parkinson Disease, Dominant
  • c.*1289T>C Single submitter Parkinson Disease, Dominant
  • p.Ala30Gly Single submitter Lewy body dementia ⚠
  • p.Ala53Val Single submitter autosomal dominant Parkinson disease 4 ⚠
  • p.Lys58Asn Single submitter Lewy body dementia ⚠
  • p.Thr72= Single submitter Parkinson Disease, Dominant
  • p.Thr75= Single submitter Lewy body dementia
  • p.Val15Ala Single submitter autosomal dominant Parkinson disease 1 ⚠

Benign 27

Benign/Likely benign 5

  • c.121+11C>T Multiple submitters Parkinson Disease, Dominant
  • c.*139T>G Multiple submitters Parkinson Disease, Dominant
  • p.Lys96Arg Multiple submitters Parkinson Disease, Dominant
  • p.Thr81= Multiple submitters Lewy body dementia
  • p.Tyr136= Multiple submitters Parkinson Disease, Dominant

Likely benign 44

Uncertain significance 78