Sugi Variant

Sugi Variant/WRAP53

WRAP53 — 555 ClinVar variants

All ClinVar germline WRAP53 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 26 Conflicting · 16 Benign · 13 Benign/Likely benign · 211 Likely benign · 283 Uncertain significance

Full WRAP53 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 234

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 7

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

Predictors lean, ClinVar uncertain 182

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 182

Predictors split 44

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

All WRAP53 variants

Pathogenic 3

  • p.Leu373fs Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Val302Phe Single submitter hereditary neoplastic syndrome
  • p.His376Tyr No assertion criteria dyskeratosis congenita, autosomal recessive 3 ⚠

Likely pathogenic 3

Conflicting classifications of pathogenicity 26

  • c.1269-13C>T Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.432-15C>G Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.643-4A>G Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.822+10G>A Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.822+6G>A Single submitter
  • c.823-11C>G Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.956-14C>T Single submitter dyskeratosis congenita, autosomal recessive 3
  • c.956-6del Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Ala145Thr Single submitter ⚠
  • p.Arg398Trp Single submitter WRAP53-related disorder ⚠
  • p.Arg513Gly Single submitter dyskeratosis congenita, autosomal recessive 3 ⚠
  • p.Asn110= Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Glu207= Single submitter
  • p.Gly408Asp Single submitter ⚠
  • p.Gly435Arg Single submitter dyskeratosis congenita, autosomal recessive 3 ⚠
  • p.His507= Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Phe419fs Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Pro240= Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Pro359Ser Single submitter dyskeratosis congenita ⚠
  • p.Ser165= Single submitter dyskeratosis congenita
  • p.Ser243= Single submitter
  • p.Thr132Asn Single submitter dyskeratosis congenita ⚠
  • p.Thr278= Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Thr305= Single submitter Hereditary cancer
  • p.Trp146Ter Single submitter dyskeratosis congenita, autosomal recessive 3
  • p.Tyr345= Single submitter dyskeratosis congenita

Benign 16

Benign/Likely benign 13

  • c.431+15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • c.823-10C>T Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Ala436= Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Arg269= Multiple submitters dyskeratosis congenita
  • p.Arg68Gly Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Cys312= Multiple submitters dyskeratosis congenita
  • p.Glu494= Multiple submitters dyskeratosis congenita
  • p.Leu547= Multiple submitters dyskeratosis congenita
  • p.Phe150= Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Phe260= Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Pro11Ser Multiple submitters dyskeratosis congenita
  • p.Pro136Arg Multiple submitters dyskeratosis congenita, autosomal recessive 3
  • p.Pro453= Multiple submitters dyskeratosis congenita, autosomal recessive 3

Likely benign 211

Uncertain significance 283