Sugi Variant

Sugi Variant/CCDC88C

CCDC88C — 1803 ClinVar variants

All ClinVar germline CCDC88C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 528 flagged for review →

63 Pathogenic · 4 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 59 Conflicting · 84 Benign · 40 Benign/Likely benign · 988 Likely benign · 514 Uncertain significance

Full CCDC88C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 528

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 42

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

Predictors lean, ClinVar uncertain 395

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 395

Predictors split 89

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

All CCDC88C variants

Pathogenic 63

Pathogenic/Likely pathogenic 4

  • p.Arg1701Ter Multiple submitters spinocerebellar ataxia type 40
  • p.Arg407Ter Multiple submitters
  • p.Ser474fs Multiple submitters spinocerebellar ataxia type 40
  • p.Thr1758fs Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 1

Likely pathogenic 51

Conflicting classifications of pathogenicity 59

Benign 84

Benign/Likely benign 40

Likely benign 988

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

Uncertain significance 514

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