Sugi Variant

Sugi Variant/MESP2

MESP2 — 418 ClinVar variants

All ClinVar germline MESP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

22 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 10 Conflicting · 10 Benign · 4 Benign/Likely benign · 183 Likely benign · 158 Uncertain significance

Full MESP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 3

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 9

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

All MESP2 variants

Pathogenic 22

Pathogenic/Likely pathogenic 5

  • p.Gly77Ter Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Gly81Ter Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Ser39Ter Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Ser42Ter Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Ser4Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 26

  • p.Arg341fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Arg62Ter Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln180fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln182fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln186fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln188fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln188Ter Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln190fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln196Ter Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln200fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln202fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln204fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln256fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln332fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gln8Ter Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Glu178fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly183fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly185fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly195Ter Single submitter
  • p.Met1fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Met1Lys Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Pro259fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Ser142fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Ser60fs Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly116fs No assertion criteria spondylocostal dysostosis 2, autosomal recessive
  • p.Trp246Ter No assertion criteria spondylocostal dysostosis 2, autosomal recessive

Conflicting classifications of pathogenicity 10

  • p.Ala173Thr Single submitter spondylocostal dysostosis 2, autosomal recessive ⚠
  • p.Ala360= Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Arg62Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly187= Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly199= Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Gly201Glu Single submitter spondylocostal dysostosis 2, autosomal recessive ⚠
  • p.Met1Val Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Pro258Ser Single submitter ⚠
  • p.Pro56= Single submitter spondylocostal dysostosis 2, autosomal recessive
  • p.Tyr307Ter Single submitter spondylocostal dysostosis 2, autosomal recessive

Benign 10

  • p.Ala66Gly Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Gln186= Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Ser224Phe Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Val138Met Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • c.925-196G>T Single submitter
  • c.925-257A>G Single submitter
  • p.180_181QG[9] Single submitter
  • p.180QG[11] Single submitter
  • c.535GGGCAGGGGCAA[2_4] No assertion criteria spondylocostal dysostosis 2, autosomal recessive
  • p.Ser224Pro No assertion criteria spondylocostal dysostosis 2, autosomal recessive

Benign/Likely benign 4

  • p.180_181QG[7] Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.180QG[9] Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Leu303Pro Multiple submitters spondylocostal dysostosis 2, autosomal recessive
  • p.Pro166= Multiple submitters spondylocostal dysostosis 2, autosomal recessive

Likely benign 183

Uncertain significance 158