Sugi Variant

Sugi Variant/TRMT1

TRMT1 — 239 ClinVar variants

All ClinVar germline TRMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 2 Conflicting · 2 Benign · 6 Benign/Likely benign · 38 Likely benign · 161 Uncertain significance

Full TRMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 lean, ClinVar uncertain 104

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

Predictors split 42

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

All TRMT1 variants

Pathogenic 13

  • p.Gln219fs Multiple submitters intellectual developmental disorder, autosomal recessive 68
  • p.Tyr445fs Multiple submitters intellectual developmental disorder, autosomal recessive 68
  • p.Arg544Ter Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Gln207Ter Single submitter Inborn genetic diseases
  • p.Glu128Ter Single submitter Inborn genetic diseases
  • p.Gly547Ter Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Gly649fs Single submitter
  • p.Leu296fs Single submitter
  • p.Lys105fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Lys371fs Single submitter Inborn genetic diseases
  • p.Pro238fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • c.1506+1G>T No assertion criteria intellectual developmental disorder, autosomal recessive 68
  • p.Gly153fs No assertion criteria intellectual developmental disorder, autosomal recessive 68

Pathogenic/Likely pathogenic 1

  • p.Arg390Ter Multiple submitters TRMT1-related disorder

Likely pathogenic 16

  • p.Arg512Ter Multiple submitters intellectual developmental disorder, autosomal recessive 68
  • p.Lys130fs Multiple submitters intellectual developmental disorder, autosomal recessive 68
  • c.1107-2A>G Single submitter
  • c.255-8_255-2delinsAG Single submitter TRMT1-related disorder
  • c.641+1G>T Single submitter
  • c.759del Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Arg323Cys Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Cys348Arg Single submitter
  • p.Cys387fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Leu10fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Phe12fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Pro379_Val380insTer Single submitter
  • p.Ser479fs Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Trp496Ter Single submitter intellectual developmental disorder, autosomal recessive 68
  • c.311-1G>A No assertion criteria intellectual developmental disorder, autosomal recessive 68
  • p.Gln78Ter No assertion criteria intellectual developmental disorder, autosomal recessive 68

Conflicting classifications of pathogenicity 2

  • c.310+5G>C Single submitter intellectual developmental disorder, autosomal recessive 68
  • p.Arg528fs Single submitter intellectual developmental disorder, autosomal recessive 68

Benign 2

  • c.1106+26G>C Multiple submitters intellectual developmental disorder, autosomal recessive 68
  • p.Ala362= Multiple submitters

Benign/Likely benign 6

Likely benign 38

Uncertain significance 161