Sugi Variant

Sugi Variant/PTDSS1

PTDSS1 — 266 ClinVar variants

All ClinVar germline PTDSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 6 Conflicting · 36 Benign · 10 Benign/Likely benign · 99 Likely benign · 107 Uncertain significance

Full PTDSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 75

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

Predictors split 16

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

All PTDSS1 variants

Pathogenic 5

  • p.Arg95Gly Single submitter
  • p.Gln353Arg Single submitter Lenz-Majewski hyperostotic dwarfism
  • p.Leu265Pro No assertion criteria Lenz-Majewski hyperostotic dwarfism
  • p.Pro269Leu No assertion criteria Lenz-Majewski hyperostotic dwarfism
  • p.Pro269Ser No assertion criteria Lenz-Majewski hyperostotic dwarfism

Pathogenic/Likely pathogenic 1

  • p.Arg95Gln Multiple submitters Lenz-Majewski hyperostotic dwarfism

Likely pathogenic 2

Conflicting classifications of pathogenicity 6

Benign 36

Benign/Likely benign 10

Likely benign 99

Uncertain significance 107