Sugi Variant

Sugi Variant/MAPT

MAPT — 581 ClinVar variants

All ClinVar germline MAPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

25 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 34 Conflicting · 92 Benign · 17 Benign/Likely benign · 152 Likely benign · 250 Uncertain significance

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

⚑ Evidence disagreements 195

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 37

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

All MAPT variants

Pathogenic 25

Pathogenic/Likely pathogenic 4

  • p.Gln728His Multiple submitters frontotemporal dementia ⚠
  • p.Gly727Ser Multiple submitters frontotemporal dementia
  • p.Gly781Arg Multiple submitters frontotemporal dementia
  • p.Ser697= Multiple submitters frontotemporal dementia

Likely pathogenic 7

Conflicting classifications of pathogenicity 34

Benign 92

Benign/Likely benign 17

  • c.1732+2364C>T Multiple submitters frontotemporal dementia
  • c.2091+29G>A Multiple submitters Inborn genetic diseases
  • p.Asp40= Multiple submitters frontotemporal dementia
  • p.Gln305Arg Multiple submitters frontotemporal dementia
  • p.Glu783= Multiple submitters frontotemporal dementia
  • p.Gly288Arg Multiple submitters frontotemporal dementia
  • p.Leu658= Multiple submitters MAPT-Related Spectrum Disorders
  • p.Lys646= Multiple submitters MAPT-Related Spectrum Disorders
  • p.Pro304= Multiple submitters frontotemporal dementia
  • p.Pro546= Multiple submitters MAPT-Related Spectrum Disorders
  • p.Pro592= Multiple submitters frontotemporal dementia
  • p.Ser502Phe Multiple submitters frontotemporal dementia
  • p.Thr17Met Multiple submitters frontotemporal dementia
  • p.Thr39= Multiple submitters frontotemporal dementia
  • p.Tyr516His Multiple submitters frontotemporal dementia
  • p.Val692Ile Multiple submitters supranuclear palsy, progressive, 1
  • c.220+2432G>A No assertion criteria

Likely benign 152

Uncertain significance 250