Sugi Variant

Sugi Variant/MECOM

MECOM — 1776 ClinVar variants

All ClinVar germline MECOM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1106 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 33 Conflicting · 5 Benign · 33 Benign/Likely benign · 527 Likely benign · 1140 Uncertain significance

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

⚑ Evidence disagreements 1106

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 23

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

Predictors lean, ClinVar uncertain 852

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 852

Predictors split 230

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 230

All MECOM variants

Pathogenic 18

  • c.2772-1G>A Single submitter MECOM-related disorder
  • c.2850-1G>A Single submitter MECOM-associated syndrome
  • p.Arg1036Ter Single submitter
  • p.Arg969His Single submitter MECOM-related disorder
  • p.Asp864fs Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Cys211Ter Single submitter
  • p.Cys954Arg Single submitter MECOM-associated syndrome
  • p.Cys954Ser Single submitter hereditary neoplastic syndrome
  • p.Glu219Ter Single submitter MECOM-associated syndrome
  • p.Leu843Ter Single submitter MECOM-associated syndrome
  • p.Lys835fs Single submitter MECOM-associated syndrome
  • p.Ser565fs Single submitter
  • p.Ser706fs Single submitter
  • p.Tyr209Ter Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Arg950Thr No assertion criteria radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Arg969Cys No assertion criteria congenital radioulnar synostosis
  • p.His939Arg No assertion criteria radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Thr944Ala No assertion criteria radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Pathogenic/Likely pathogenic 2

Likely pathogenic 18

  • p.Thr944Ile Multiple submitters MECOM-associated syndrome
  • c.2772-4A>G Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • c.613+1G>C Single submitter
  • p.Arg393His Single submitter MECOM-associated syndrome
  • p.Arg950Lys Single submitter ⚠
  • p.Arg969Leu Single submitter congenital radioulnar synostosis
  • p.Asn935Asp Single submitter
  • p.Gln247Ter Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Glu946Lys Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Gly799fs Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Gly802fs Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Lys800Ter Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Phe958Ser Single submitter MECOM-associated syndrome
  • p.Pro948Ala Single submitter radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • p.Tyr385Cys Single submitter MECOM-associated syndrome
  • p.Gln560Ter No assertion criteria thrombocytopenia
  • p.Gln965Glu No assertion criteria congenital radioulnar synostosis
  • p.Ile971Thr No assertion criteria congenital radioulnar synostosis

Conflicting classifications of pathogenicity 33

Benign 5

Benign/Likely benign 33

Likely benign 527

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

Uncertain significance 1140

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