Sugi Variant

Sugi Variant/PDSS1

PDSS1 — 416 ClinVar variants

All ClinVar germline PDSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

6 Pathogenic · 9 Likely pathogenic · 26 Conflicting · 55 Benign · 12 Benign/Likely benign · 132 Likely benign · 176 Uncertain significance

Full PDSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 8

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 13

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

All PDSS1 variants

Pathogenic 6

  • p.Ile388fs Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Thr323fs Single submitter
  • p.Asp308Glu No assertion criteria deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Gln245His No assertion criteria deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Ser370Arg No assertion criteria deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Val239Gly No assertion criteria deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Likely pathogenic 9

  • p.Arg221Ter Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Trp6Ter Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.336+5G>T Single submitter
  • p.Ala18fs Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Arg146Ter Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Asp237fs Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Gly208Ter Single submitter
  • p.Gly223Val Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Ile58_Asn59insTer Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Conflicting classifications of pathogenicity 26

  • c.1108-7C>G Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.129+9G>A Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.130-10G>T Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.163-12T>C Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.228-8T>C Single submitter
  • c.467+9T>G Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.609+4T>C Single submitter
  • c.721+4C>A Single submitter
  • p.Ala17= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Arg156Ter Single submitter
  • p.Arg28Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg352Gln Single submitter ⚠
  • p.Arg73His Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome ⚠
  • p.Gln375fs Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Glu113Ter Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Glu254Gln Single submitter ⚠
  • p.Glu386Gly Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome ⚠
  • p.Ile388Val Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome ⚠
  • p.Lys197Glu Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome ⚠
  • p.Lys97= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Ser229Cys Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome ⚠
  • p.Thr194= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Thr194fs Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Thr333= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Thr81= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Thr93= Single submitter deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Benign 55

Benign/Likely benign 12

  • c.1027-11T>C Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.1027-6dup Multiple submitters
  • c.1027-7_1027-6del Multiple submitters
  • c.1107+17A>T Multiple submitters
  • c.1107+24dup Multiple submitters
  • c.1108-3T>C Multiple submitters
  • c.*157T>G Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • c.*3A>G Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Ala142= Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Arg137= Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • p.Asp180= Multiple submitters
  • p.Pro344= Multiple submitters deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Likely benign 132

Uncertain significance 176