Sugi Variant

Sugi Variant/PUS3

PUS3 — 175 ClinVar variants

All ClinVar germline PUS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 6 Conflicting · 11 Benign · 1 Benign/Likely benign · 39 Likely benign · 102 Uncertain significance

Full PUS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 4

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 23

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

All PUS3 variants

Pathogenic 5

  • c.-47+3170T>C Multiple submitters HYLS1-related disorders ⚠
  • p.Arg19Ter Multiple submitters
  • p.Arg435Ter Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Arg27fs Single submitter
  • p.Asn146fs Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Pathogenic/Likely pathogenic 3

  • p.Ala123fs Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Arg280Ter Multiple submitters PUS3-related disorder
  • p.Tyr71Cys Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Likely pathogenic 8

  • c.-47+3159G>A Single submitter HYLS1-related disorders
  • p.Asn331fs Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Cys114Arg Single submitter anencephaly
  • p.Gln350Ter Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Lys328Ter Single submitter Inborn genetic diseases
  • p.Ser394fs Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Thr108fs Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Thr6fs Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Conflicting classifications of pathogenicity 6

  • c.-47+3A>G Single submitter
  • p.Arg193Gln Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ⚠
  • p.Arg19Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile305Val Single submitter Inborn genetic diseases ⚠
  • p.Met1Val Single submitter severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Thr371Ser Single submitter Inborn genetic diseases ⚠

Benign 11

  • c.-25C>G Multiple submitters
  • c.-28G>A Multiple submitters
  • p.Ala46Ser Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Asn9= Multiple submitters
  • p.Glu460Asp Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Gly47Arg Multiple submitters
  • p.Pro179Ser Multiple submitters ⚠
  • p.Tyr3Asp Multiple submitters severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
  • p.Gly422Arg Single submitter ⚠
  • p.Tyr3= Single submitter
  • p.Tyr363= Single submitter

Benign/Likely benign 1

Likely benign 39

Uncertain significance 102