Sugi Variant

Sugi Variant/PITPNM3

PITPNM3 — 1046 ClinVar variants

All ClinVar germline PITPNM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 435 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 43 Conflicting · 62 Benign · 33 Benign/Likely benign · 367 Likely benign · 538 Uncertain significance

Full PITPNM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 435

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 22

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

Predictors lean, ClinVar uncertain 325

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 325

Predictors split 88

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

All PITPNM3 variants

Pathogenic 2

  • p.Arg92Ter Single submitter arteriovenous malformations of the brain
  • p.Tyr554Ter Single submitter cone dystrophy

Likely pathogenic 1

Conflicting classifications of pathogenicity 43

Benign 62

Benign/Likely benign 33

Likely benign 367

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 538

Showing the top 300 by review status; the full set is in the sitemap.