Sugi Variant

Sugi Variant/TREM2

TREM2 — 183 ClinVar variants

All ClinVar germline TREM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

10 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 13 Conflicting · 3 Benign · 7 Benign/Likely benign · 58 Likely benign · 78 Uncertain significance

Full TREM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 62

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 agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 50

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

Predictors split 7

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

All TREM2 variants

Pathogenic 10

  • p.Gln33Ter Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
  • c.40+1G>A Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Ala105fs Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.Asp86fs Single submitter
  • p.Glu14Ter Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.His67fs Single submitter
  • p.Leu164Ter Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Lys123fs Single submitter
  • p.Trp198Ter Single submitter frontotemporal dementia
  • p.Tyr38Cys Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Pathogenic/Likely pathogenic 4

  • p.Thr66Met Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Val126Gly Multiple submitters TREM2-related disorder
  • c.40+4_40+6del No assertion criteria polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • c.482+2T>C No assertion criteria polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Likely pathogenic 10

  • c.483-2A>C Multiple submitters
  • p.Asp86Val Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.392-2A>T Single submitter
  • c.41-1G>C Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.483-1G>A Single submitter
  • p.Phe143fs Single submitter
  • p.Trp44Ter Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Trp78Ter Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Tyr38Ter Single submitter
  • p.Gly90fs No assertion criteria polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Conflicting classifications of pathogenicity 13

  • c.40+13C>T Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.482+7C>T Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.677-6T>C Single submitter
  • c.*107G>T Single submitter
  • p.Ala28Val Single submitter ⚠
  • p.Arg136Gln Single submitter ⚠
  • p.Arg62Cys Single submitter
  • p.Asp131= Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Asp134Gly Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 ⚠
  • p.Asp87Asn Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 ⚠
  • p.Leu133= Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Pro172Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr230= Single submitter polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Benign 3

  • c.*30G>A Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.40+88T>C Single submitter
  • c.41-43C>T Single submitter

Benign/Likely benign 7

  • c.*48A>T Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • c.*73G>A Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Arg62His Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • p.His157Tyr Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Leu211Pro Multiple submitters
  • p.Thr223Ile Multiple submitters polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • p.Thr96Lys Multiple submitters ⚠

Likely benign 58

Uncertain significance 78