Sugi Variant

Sugi Variant/PTF1A

PTF1A — 156 ClinVar variants

All ClinVar germline PTF1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 8 Conflicting · 4 Benign · 5 Benign/Likely benign · 49 Likely benign · 83 Uncertain significance

Full PTF1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 54

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 PTF1A variants

Pathogenic 4

  • c.784+1G>A Single submitter maturity-onset diabetes of the young
  • p.Pro236fs Single submitter
  • p.Ala146_Arg154delinsGly No assertion criteria permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • p.Arg296Ter No assertion criteria permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pathogenic/Likely pathogenic 1

  • p.Pro191Thr Multiple submitters kallikrein, decreased urinary activity of

Likely pathogenic 2

Conflicting classifications of pathogenicity 8

  • p.Ala15Val Single submitter pancreatic agenesis 2 ⚠
  • p.Ala167Thr Single submitter permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ⚠
  • p.Asn320Lys Single submitter monogenic diabetes ⚠
  • p.Cys67= Single submitter permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • p.Gly90Ala Single submitter monogenic diabetes ⚠
  • p.Leu218= Single submitter permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • p.Ser263Pro Single submitter pancreatic beta cell agenesis with neonatal diabetes mellitus ⚠
  • p.Ser54= Single submitter permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Benign 4

Benign/Likely benign 5

  • c.*15G>A Multiple submitters permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • c.*190C>T Multiple submitters permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • p.Ala129Val Multiple submitters pancreatic agenesis 2
  • p.Asp34= Multiple submitters permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • p.Pro323= Multiple submitters

Likely benign 49

Uncertain significance 83