Sugi Variant

Sugi Variant/DDB2

DDB2 — 160 ClinVar variants

All ClinVar germline DDB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 11 Conflicting · 21 Benign · 3 Benign/Likely benign · 38 Likely benign · 72 Uncertain significance

Full DDB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 32

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

Predictors split 21

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

All DDB2 variants

Pathogenic 7

Pathogenic/Likely pathogenic 3

Likely pathogenic 5

Conflicting classifications of pathogenicity 11

  • c.127+5T>G Single submitter xeroderma pigmentosum
  • c.264+8A>G Single submitter xeroderma pigmentosum group E
  • c.702+12G>A Single submitter xeroderma pigmentosum group E
  • p.Ala34Ser Single submitter ovarian cancer ⚠
  • p.Ala410Thr Single submitter xeroderma pigmentosum ⚠
  • p.Arg20Lys Single submitter xeroderma pigmentosum group E ⚠
  • p.Gln171Glu Single submitter xeroderma pigmentosum group E ⚠
  • p.Ile351= Single submitter xeroderma pigmentosum
  • p.Leu207= Single submitter xeroderma pigmentosum
  • p.Pro328= Single submitter xeroderma pigmentosum group E
  • p.Ser310= Single submitter xeroderma pigmentosum group E

Benign 21

Benign/Likely benign 3

  • c.*151C>A Multiple submitters xeroderma pigmentosum group E
  • p.Thr246= Multiple submitters xeroderma pigmentosum group E
  • p.Val193Ile Multiple submitters xeroderma pigmentosum group E

Likely benign 38

Uncertain significance 72