Sugi Variant

Sugi Variant/TYROBP

TYROBP — 112 ClinVar variants

All ClinVar germline TYROBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

4 Pathogenic · 4 Likely pathogenic · 8 Conflicting · 6 Benign · 3 Benign/Likely benign · 39 Likely benign · 48 Uncertain significance

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

⚑ Evidence disagreements 39

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 5

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

Predictors lean, ClinVar uncertain 30

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 TYROBP variants

Pathogenic 4

  • p.Arg72Ter Single submitter
  • p.Gln28Ter Single submitter
  • p.Met48fs Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Met1Thr No assertion criteria polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Likely pathogenic 4

  • p.Ala60fs Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Glu88Ter Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Leu51fs Single submitter
  • p.Ser39Asn No assertion criteria polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ⚠

Conflicting classifications of pathogenicity 8

Benign 6

  • c.94+10G>C Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • c.94+39G>A Multiple submitters
  • c.*25A>C Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Val55Leu Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • c.277-191G>A Single submitter
  • c.61+171G>A Single submitter

Benign/Likely benign 3

  • c.*140T>C Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • c.*83C>T Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Arg23His Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Likely benign 39

Uncertain significance 48