Sugi Variant

Sugi Variant/PRSS12

PRSS12 — 306 ClinVar variants

All ClinVar germline PRSS12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →

4 Likely pathogenic · 8 Conflicting · 7 Benign · 10 Benign/Likely benign · 31 Likely benign · 246 Uncertain significance

Full PRSS12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 174

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 2

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

Predictors lean, ClinVar uncertain 141

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

Predictors split 31

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

All PRSS12 variants

Likely pathogenic 4

  • p.Gln261Ter Single submitter
  • p.Pro341fs Single submitter intellectual disability, autosomal recessive 1
  • p.Trp148fs Single submitter intellectual disability, autosomal recessive 1
  • p.Trp529Ter Single submitter intellectual disability, autosomal recessive 1

Conflicting classifications of pathogenicity 8

  • c.1837+1G>A Single submitter intellectual disability, autosomal recessive 1
  • p.Ala312= Single submitter intellectual disability, autosomal recessive 1
  • p.Gly175Ser Single submitter intellectual disability, autosomal recessive 1 ⚠
  • p.Gly322= Single submitter intellectual disability, autosomal recessive 1
  • p.His473fs Single submitter
  • p.Met830fs Single submitter intellectual disability, autosomal recessive 1
  • p.Pro108Arg Single submitter ⚠
  • p.Val304Ile Single submitter intellectual disability, autosomal recessive 1 ⚠

Benign 7

  • c.*1595A>G Multiple submitters intellectual disability, autosomal recessive 1
  • p.Arg55Thr Multiple submitters intellectual disability, autosomal recessive 1
  • p.Gln427= Multiple submitters intellectual disability, autosomal recessive 1
  • p.Val424= Multiple submitters intellectual disability, autosomal recessive 1
  • c.*672C>T Single submitter intellectual disability, autosomal recessive 1
  • c.*912G>A Single submitter intellectual disability, autosomal recessive 1
  • p.Arg292= Single submitter

Benign/Likely benign 10

  • c.1490-7G>A Multiple submitters
  • p.Ala606Ser Multiple submitters
  • p.Glu17= Multiple submitters intellectual disability, autosomal recessive 1
  • p.Gly215= Multiple submitters intellectual disability, autosomal recessive 1
  • p.His591= Multiple submitters intellectual disability, autosomal recessive 1
  • p.Leu10Val Multiple submitters intellectual disability, autosomal recessive 1
  • p.Leu382= Multiple submitters intellectual disability, autosomal recessive 1
  • p.Pro147Leu Multiple submitters intellectual disability, autosomal recessive 1 ⚠
  • p.Ser845= Multiple submitters intellectual disability, autosomal recessive 1
  • p.Val424Ile Multiple submitters

Likely benign 31

Uncertain significance 246