Sugi Variant

Sugi Variant/PLEKHM2

PLEKHM2 — 937 ClinVar variants

All ClinVar germline PLEKHM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 437 flagged for review →

2 Likely pathogenic · 11 Conflicting · 56 Benign · 23 Benign/Likely benign · 352 Likely benign · 493 Uncertain significance

Full PLEKHM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 437

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 340

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 340

Predictors split 88

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

All PLEKHM2 variants

Likely pathogenic 2

  • c.2923-2A>G Single submitter PLEKHM2-related disorder
  • p.Glu756fs Single submitter PLEKHM2-related disorder

Conflicting classifications of pathogenicity 11

Benign 56

Benign/Likely benign 23

Likely benign 352

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

Uncertain significance 493

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