Sugi Variant

Sugi Variant/PDX1

PDX1 — 254 ClinVar variants

All ClinVar germline PDX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 19 Conflicting · 8 Benign · 6 Benign/Likely benign · 59 Likely benign · 149 Uncertain significance

Full PDX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 9

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 33

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

All PDX1 variants

Pathogenic 2

  • p.Glu178Gly Single submitter pancreatic agenesis 1
  • p.Phe165fs Single submitter Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus

Pathogenic/Likely pathogenic 1

  • p.Glu178Lys Multiple submitters pancreatic agenesis 1

Likely pathogenic 10

  • p.Gln225fs Multiple submitters maturity-onset diabetes of the young type 4
  • p.Lys191Gln Multiple submitters maturity-onset diabetes of the young type 4
  • c.406+2T>C Single submitter pancreatic agenesis 1
  • p.Ala228fs Single submitter
  • p.Arg148Gly Single submitter maturity-onset diabetes of the young type 4
  • p.Asn168His Single submitter maturity-onset diabetes of the young type 4 ⚠
  • p.Cys18Ter Single submitter
  • p.Glu178Ala Single submitter maturity-onset diabetes of the young type 4
  • p.Gly246fs Single submitter maturity-onset diabetes of the young type 4
  • p.Lys163Arg Single submitter PDX1-related disorder

Conflicting classifications of pathogenicity 19

Benign 8

Benign/Likely benign 6

  • p.Asn2= Multiple submitters maturity-onset diabetes of the young
  • p.Leu166= Multiple submitters type 2 diabetes mellitus
  • p.Leu54= Multiple submitters Pancreatic hypoplasia
  • p.Pro112= Multiple submitters maturity-onset diabetes of the young
  • p.Pro244= Multiple submitters maturity-onset diabetes of the young
  • p.Val70= Multiple submitters maturity-onset diabetes of the young

Likely benign 59

Uncertain significance 149