Sugi Variant

Sugi Variant/PDSS2

PDSS2 — 279 ClinVar variants

All ClinVar germline PDSS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 12 Conflicting · 16 Benign · 5 Benign/Likely benign · 109 Likely benign · 132 Uncertain significance

Full PDSS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 9

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

Predictors lean, ClinVar uncertain 93

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

Predictors split 12

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

All PDSS2 variants

Pathogenic 1

Likely pathogenic 4

  • p.Asn134fs Single submitter coenzyme Q10 deficiency, primary, 3
  • p.Lys292Glu Single submitter ⚠
  • p.Lys44fs Single submitter coenzyme Q10 deficiency, primary, 3
  • p.Tyr62fs Single submitter coenzyme Q10 deficiency, primary, 3

Conflicting classifications of pathogenicity 12

Benign 16

Benign/Likely benign 5

  • c.1009-14C>G Multiple submitters coenzyme Q10 deficiency, primary, 3
  • c.431+17C>T Multiple submitters coenzyme Q10 deficiency, primary, 3
  • p.Glu383= Multiple submitters
  • p.Gly184= Multiple submitters
  • p.Ser378= Multiple submitters coenzyme Q10 deficiency, primary, 3

Likely benign 109

Uncertain significance 132