Sugi Variant

Sugi Variant/ANAPC1

ANAPC1 — 273 ClinVar variants

All ClinVar germline ANAPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Conflicting · 20 Benign · 5 Benign/Likely benign · 29 Likely benign · 212 Uncertain significance

Full ANAPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 217

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 3

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 143

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

Predictors split 70

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

All ANAPC1 variants

Pathogenic 2

  • c.4373+1G>A No assertion criteria Rothmund-Thomson syndrome type 1
  • p.Asn593fs No assertion criteria Rothmund-Thomson syndrome type 1

Pathogenic/Likely pathogenic 1

  • c.2705-198C>T No assertion criteria Rothmund-Thomson syndrome type 1

Conflicting classifications of pathogenicity 4

Benign 20

Benign/Likely benign 5

Likely benign 29

Uncertain significance 212