Sugi Variant

Sugi Variant/HTRA2

HTRA2 — 333 ClinVar variants

All ClinVar germline HTRA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 7 Conflicting · 12 Benign · 4 Benign/Likely benign · 148 Likely benign · 147 Uncertain significance

Full HTRA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 lean, ClinVar uncertain 101

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

Predictors split 18

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

All HTRA2 variants

Pathogenic 11

Pathogenic/Likely pathogenic 1

Likely pathogenic 3

  • c.506+1G>C Single submitter
  • p.Gly406Cys Single submitter 3-methylglutaconic aciduria type 8
  • p.Leu338del No assertion criteria 3-methylglutaconic aciduria type 8

Conflicting classifications of pathogenicity 7

  • c.1046-13C>T Single submitter Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Ala6= Single submitter
  • p.Asn291= Single submitter Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Gln440Ter Single submitter
  • p.Leu377= Single submitter Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Ser352= Single submitter Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Val275= Single submitter Parkinson disease 13, autosomal dominant, susceptibility to

Benign 12

  • c.1046-49G>A Multiple submitters
  • c.1116-23T>C Multiple submitters
  • c.506+50G>A Multiple submitters
  • c.906+76A>G Multiple submitters
  • c.940-58G>A Multiple submitters
  • c.-586G>C Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • c.*384C>A Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • c.*531A>G Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • c.*94C>T Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Ala141Ser Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • c.-146G>A Single submitter Parkinson disease 13, autosomal dominant, susceptibility to
  • c.*443T>A Single submitter Parkinson disease 13, autosomal dominant, susceptibility to

Benign/Likely benign 4

  • c.507-9C>T Multiple submitters
  • p.Ala160= Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to
  • p.Gly399Ser Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to ⚠
  • p.Leu72Pro Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to

Likely benign 148

Uncertain significance 147