Sugi Variant

Sugi Variant/MAPRE2

MAPRE2 — 66 ClinVar variants

All ClinVar germline MAPRE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Conflicting · 2 Benign · 2 Benign/Likely benign · 25 Likely benign · 29 Uncertain significance

Full MAPRE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 26

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 1

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 17

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

Predictors split 7

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

All MAPRE2 variants

Pathogenic 3

  • p.Asn68Ser No assertion criteria skin creases, congenital symmetric circumferential, 2
  • p.Gln152Ter No assertion criteria skin creases, congenital symmetric circumferential, 2
  • p.Tyr87Cys No assertion criteria skin creases, congenital symmetric circumferential, 2

Pathogenic/Likely pathogenic 1

  • p.Arg143Cys Multiple submitters Developmental disorder

Likely pathogenic 2

  • p.Arg173Gln Single submitter skin creases, congenital symmetric circumferential, 2
  • p.Thr57fs Single submitter skin creases, congenital symmetric circumferential, 2

Conflicting classifications of pathogenicity 2

  • p.Arg173Ter Single submitter skin creases, congenital symmetric circumferential, 2 ⚠
  • p.Val290Met Single submitter skin creases, congenital symmetric circumferential, 2 ⚠

Benign 2

Benign/Likely benign 2

Likely benign 25

Uncertain significance 29