Sugi Variant

Sugi Variant/PTRH2

PTRH2 — 49 ClinVar variants

All ClinVar germline PTRH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 2 Benign/Likely benign · 14 Likely benign · 24 Uncertain significance

Full PTRH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 22

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 16

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

Predictors split 5

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

All PTRH2 variants

Pathogenic 3

  • p.Ala90fs Multiple submitters neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
  • p.Gln85Pro Multiple submitters neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
  • p.Trp108Ter Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

Likely pathogenic 6

  • p.Arg34Ter Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
  • p.Gln85Ter Single submitter
  • p.Gly38fs Single submitter
  • p.Ser43fs Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
  • p.Trp31Ter Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
  • p.Val23Ala No assertion criteria neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset ⚠

Benign/Likely benign 2

Likely benign 14

Uncertain significance 24