SNCAIP — 193 ClinVar variants

All ClinVar germline SNCAIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

2 Conflicting · 8 Benign · 6 Benign/Likely benign · 35 Likely benign · 142 Uncertain significance

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

⚑ Evidence disagreements 114

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 91

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

All SNCAIP variants

Conflicting classifications of pathogenicity 2

  • p.Ala714Thr Single submitter Parkinson Disease, Dominant/Recessive ⚠
  • p.Arg731Cys Single submitter Parkinson Disease, Dominant/Recessive ⚠

Benign 8

  • p.Arg806His Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Met711Val Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Ser406= Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Thr27= Multiple submitters Parkinson Disease, Dominant/Recessive
  • c.-49C>G Single submitter Parkinson Disease, Dominant/Recessive
  • c.*314T>C Single submitter Parkinson Disease, Dominant/Recessive
  • p.Lys575= Single submitter
  • p.Val816= Single submitter

Benign/Likely benign 6

  • c.*70C>G Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Cys192= Multiple submitters
  • p.Glu709Gln Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Leu378= Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Pro212= Multiple submitters Parkinson Disease, Dominant/Recessive
  • p.Ser139= Multiple submitters Parkinson Disease, Dominant/Recessive

Likely benign 35

Uncertain significance 142