Sugi Variant

Sugi Variant/TRAPPC6B

TRAPPC6B — 71 ClinVar variants

All ClinVar germline TRAPPC6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 9 Benign · 20 Likely benign · 31 Uncertain significance

Full TRAPPC6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 25

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 22

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

Predictors split 3

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

All TRAPPC6B variants

Pathogenic 6

  • c.82-2A>G Multiple submitters neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • p.Arg42Ter Single submitter neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • p.Gln95Ter Single submitter
  • p.Leu10fs Single submitter neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • p.Phe41fs Single submitter
  • c.150-2A>G No assertion criteria neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Pathogenic/Likely pathogenic 1

  • p.Arg31Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 4

  • c.149+2T>A Single submitter neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • c.268-2_268-1del Single submitter neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • p.Glu13Ter Single submitter TRAPPC6B-related disorder
  • p.Thr34fs Single submitter neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Benign 9

Likely benign 20

Uncertain significance 31