Sugi Variant

Sugi Variant/MKRN3

MKRN3 — 125 ClinVar variants

All ClinVar germline MKRN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 8 Conflicting · 1 Benign · 4 Benign/Likely benign · 31 Likely benign · 69 Uncertain significance

Full MKRN3 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 6

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 4

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

All MKRN3 variants

Pathogenic 5

  • p.Pro161fs Single submitter precocious puberty, central, 2
  • p.Arg213fs No assertion criteria precocious puberty, central, 2
  • p.Arg328Cys No assertion criteria precocious puberty, central, 2
  • p.Arg365Ser No assertion criteria precocious puberty, central, 2
  • p.Tyr391Ter No assertion criteria precocious puberty, central, 2

Pathogenic/Likely pathogenic 1

  • p.Ala288fs Multiple submitters MKRN3-related disorder

Likely pathogenic 6

Conflicting classifications of pathogenicity 8

Benign 1

Benign/Likely benign 4

Likely benign 31

Uncertain significance 69