Sugi Variant

Sugi Variant/MRAP

MRAP — 67 ClinVar variants

All ClinVar germline MRAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

9 Pathogenic · 6 Benign · 11 Likely benign · 41 Uncertain significance

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

⚑ Evidence disagreements 25

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 lean, ClinVar uncertain 24

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

Predictors split 1

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

All MRAP variants

Pathogenic 9

  • c.106+1del Multiple submitters glucocorticoid deficiency 2
  • c.106+1G>C Multiple submitters glucocorticoid deficiency 2
  • p.Met1Ile Multiple submitters glucocorticoid deficiency 2
  • c.106+1G>A Single submitter MRAP-related disorder
  • c.106+2dup Single submitter MRAP-related disorder
  • p.Met1Val Single submitter glucocorticoid deficiency 1
  • c.106+1G>T No assertion criteria glucocorticoid deficiency 2
  • c.106+3_106+4insT No assertion criteria glucocorticoid deficiency 2
  • p.Asn6fs No assertion criteria glucocorticoid deficiency 2

Benign 6

  • c.*108A>G Multiple submitters glucocorticoid deficiency 2
  • p.Cys78Trp Multiple submitters glucocorticoid deficiency 2
  • p.Thr130Ile Multiple submitters glucocorticoid deficiency 2
  • c.-130A>G Single submitter glucocorticoid deficiency 2
  • c.-20G>C Single submitter glucocorticoid deficiency 2
  • p.Thr130= Single submitter glucocorticoid deficiency 2

Likely benign 11

Uncertain significance 41