Sugi Variant

Sugi Variant/DKC1

DKC1 — 502 ClinVar variants

All ClinVar germline DKC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 22 Conflicting · 28 Benign · 7 Benign/Likely benign · 263 Likely benign · 152 Uncertain significance

Full DKC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 159

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 4

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 74

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

All DKC1 variants

Pathogenic 17

  • p.Ala353Val Multiple submitters dyskeratosis congenita ⚠
  • p.Thr49Met Multiple submitters dyskeratosis congenita ⚠
  • p.Ala2del Single submitter dyskeratosis congenita
  • p.Ala386Thr Single submitter dyskeratosis congenita, X-linked
  • p.Arg449Gly Single submitter ⚠
  • p.Asn63Lys Single submitter dyskeratosis congenita ⚠
  • p.His68Arg Single submitter dyskeratosis congenita, X-linked
  • p.Tyr323Ter Single submitter dyskeratosis congenita
  • c.1259+1G>A No assertion criteria dyskeratosis congenita, X-linked
  • c.16+592C>G No assertion criteria DKC1-related disorder
  • p.Gln31Lys No assertion criteria dyskeratosis congenita, X-linked ⚠
  • p.Glu206Lys No assertion criteria cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
  • p.Gly402Glu No assertion criteria dyskeratosis congenita, X-linked
  • p.Ile38Thr No assertion criteria dyskeratosis congenita, X-linked ⚠
  • p.Leu72Tyr No assertion criteria dyskeratosis congenita, X-linked
  • p.Phe36Val No assertion criteria dyskeratosis congenita, X-linked ⚠
  • p.Pro40Arg No assertion criteria dyskeratosis congenita, X-linked ⚠

Pathogenic/Likely pathogenic 1

Likely pathogenic 12

Conflicting classifications of pathogenicity 22

Benign 28

Benign/Likely benign 7

Likely benign 263

Uncertain significance 152