Sugi Variant

Sugi Variant/VPS13C

VPS13C — 1128 ClinVar variants

All ClinVar germline VPS13C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

45 Pathogenic · 10 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 19 Conflicting · 196 Benign · 40 Benign/Likely benign · 385 Likely benign · 392 Uncertain significance

Full VPS13C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 273

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 10

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

Predictors lean, ClinVar uncertain 248

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 248

Predictors split 14

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

All VPS13C variants

Pathogenic 45

Pathogenic/Likely pathogenic 10

  • p.Arg2936Ter Multiple submitters autosomal recessive early-onset Parkinson disease 23
  • p.Arg3652Ter Multiple submitters autosomal recessive early-onset Parkinson disease 23
  • p.Arg371Ter Multiple submitters autosomal recessive early-onset Parkinson disease 23
  • p.Arg567Ter Multiple submitters
  • p.Asn1066fs Multiple submitters VPS13C-related disorder
  • p.Asn2461fs Multiple submitters
  • p.Glu3407Ter Multiple submitters intellectual developmental disorder with or without epilepsy or cerebellar ataxia
  • p.Gly1389Arg Multiple submitters young-onset Parkinson disease ⚠
  • p.Ile1477fs Multiple submitters
  • p.Ile398fs Multiple submitters autosomal recessive early-onset Parkinson disease 23

Likely pathogenic 41

  • c.5868+1G>A Multiple submitters autosomal recessive early-onset Parkinson disease 23
  • c.101-1G>A Single submitter
  • c.10414+1G>A Single submitter autosomal recessive early-onset Parkinson disease 23
  • c.1483+1G>A Single submitter autosomal recessive early-onset Parkinson disease 23
  • c.2408+1G>A Single submitter young-onset Parkinson disease
  • c.385+1G>A Single submitter autosomal recessive early-onset Parkinson disease 23
  • c.385+1G>T Single submitter autosomal recessive early-onset Parkinson disease 23
  • c.3908+2T>C Single submitter young-onset Parkinson disease
  • c.4536+1G>A Single submitter
  • c.5601+1G>C Single submitter
  • c.5602-2A>G Single submitter
  • c.5756-1G>T Single submitter autosomal recessive early-onset Parkinson disease 23
  • c.6039-2A>G Single submitter VPS13C-related disorder
  • c.6609+1G>A Single submitter
  • c.825+2T>C Single submitter
  • c.826-1G>A Single submitter VPS13C-related disorder
  • c.884-1G>A Single submitter VPS13C-related disorder
  • c.8978+1G>A Single submitter
  • c.9483+1G>A Single submitter
  • p.Arg1447fs Single submitter
  • p.Arg2294Ter Single submitter
  • p.Arg251Ter Single submitter
  • p.Arg3007Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Arg3526Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Asn1001fs Single submitter
  • p.Asn755fs Single submitter
  • p.Gln1897Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Gln1900Ter Single submitter young-onset Parkinson disease
  • p.Gln2460Ter Single submitter VPS13C-related disorder
  • p.Gln3082Ter Single submitter
  • p.Gln3188Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Glu3161Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Gly1111Ter Single submitter young-onset Parkinson disease
  • p.His2580fs Single submitter
  • p.Leu1821Ter Single submitter young-onset Parkinson disease
  • p.Leu3184Ter Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Lys2018fs Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Lys2242fs Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Phe296fs Single submitter VPS13C-related disorder
  • p.Pro3596fs Single submitter autosomal recessive early-onset Parkinson disease 23
  • p.Trp373Ter Single submitter young-onset Parkinson disease

Conflicting classifications of pathogenicity 19

Benign 196

Benign/Likely benign 40

Likely benign 385

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 392

Showing the top 300 by review status; the full set is in the sitemap.