Sugi Variant

Sugi Variant/THUMPD1

THUMPD1 — 68 ClinVar variants

All ClinVar germline THUMPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

7 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 2 Likely benign · 56 Uncertain significance

Full THUMPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 54

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 45

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

Predictors split 9

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

All THUMPD1 variants

Pathogenic 7

  • p.Glu212fs Multiple submitters neurodevelopmental disorder with speech delay and variable ocular anomalies
  • p.Ala97fs Single submitter neurodevelopmental disorder with speech delay and variable ocular anomalies
  • p.Arg157Ter Single submitter neurodevelopmental disorder
  • p.Glu102fs Single submitter neurodevelopmental disorder
  • p.Leu114Ter Single submitter neurodevelopmental disorder
  • p.Pro164Ser Single submitter neurodevelopmental disorder
  • p.Ser166fs Single submitter neurodevelopmental disorder

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Likely benign 2

  • p.Ala292Gly Single submitter Inborn genetic diseases
  • p.Ala33Thr Single submitter Inborn genetic diseases

Uncertain significance 56