Sugi Variant

Sugi Variant/TRRAP

TRRAP — 2522 ClinVar variants

All ClinVar germline TRRAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 537 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 93 Conflicting · 162 Benign · 69 Benign/Likely benign · 1002 Likely benign · 1161 Uncertain significance

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

⚑ Evidence disagreements 537

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 40

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

Predictors lean, ClinVar uncertain 397

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 397

Predictors split 99

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

All TRRAP variants

Pathogenic 7

  • p.Ala1043Val Single submitter developmental delay with or without dysmorphic facies and autism ⚠
  • p.Ala27Pro Single submitter
  • p.Arg1954Trp Single submitter
  • p.His1951Arg Single submitter
  • p.Leu805Phe No assertion criteria developmental delay with or without dysmorphic facies and autism
  • p.Trp1873Arg No assertion criteria developmental delay with or without dysmorphic facies and autism
  • p.Trp1873Cys No assertion criteria developmental delay with or without dysmorphic facies and autism

Pathogenic/Likely pathogenic 3

  • p.Arg1035Gln Multiple submitters developmental delay with or without dysmorphic facies and autism
  • p.Glu1104Gly Multiple submitters developmental delay with or without dysmorphic facies and autism
  • p.Met3318Val Multiple submitters developmental delay with or without dysmorphic facies and autism

Likely pathogenic 25

  • p.Glu1106Lys Multiple submitters neurodevelopmental disorder
  • p.Val1030Ile Multiple submitters
  • c.1813-52T>A Single submitter developmental delay with or without dysmorphic facies and autism
  • c.2622+1G>A Single submitter hearing loss, autosomal dominant 75
  • p.Arg1035Gly Single submitter Global developmental delay
  • p.Arg1866Cys Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Gln1067Ter Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Glu104Ter Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Glu2912Ter Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Glu3160Gly Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Gly1159Arg Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Gly1160Val Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Ile1031Met Single submitter TRRAP-related neurodevelopmental disorder ⚠
  • p.Leu1909Arg Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Met1027fs Single submitter
  • p.Met2407Val Single submitter
  • p.Pro1292Thr Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Pro1939Leu Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Pro3304Leu Single submitter
  • p.Ser207Ile Single submitter TRRAP-related disorder ⚠
  • p.Thr2119del Single submitter developmental delay with or without dysmorphic facies and autism
  • p.Val1908Ile Single submitter ⚠
  • p.Val3585Leu Single submitter
  • p.Ser923_Thr925del No assertion criteria TRRAP-related disorder
  • p.Tyr172Ter No assertion criteria developmental delay with or without dysmorphic facies and autism

Conflicting classifications of pathogenicity 93

Benign 162

Benign/Likely benign 69

Likely benign 1002

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

Uncertain significance 1161

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