Sugi Variant

Sugi Variant/MATN3

MATN3 — 375 ClinVar variants

All ClinVar germline MATN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

3 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 22 Conflicting · 23 Benign · 7 Benign/Likely benign · 80 Likely benign · 229 Uncertain significance

Full MATN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 10

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

Predictors lean, ClinVar uncertain 140

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

Predictors split 36

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

All MATN3 variants

Pathogenic 3

  • p.Ala128Pro No assertion criteria multiple epiphyseal dysplasia type 5
  • p.Cys304Ser No assertion criteria spondyloepimetaphyseal dysplasia, matrilin-3 type
  • p.Val194Asp No assertion criteria multiple epiphyseal dysplasia type 5

Pathogenic/Likely pathogenic 3

  • p.Ala219Asp Multiple submitters MATN3-related disorder
  • p.Arg121Trp Multiple submitters MATN3-related disorder
  • p.Thr120Met Multiple submitters spondyloepimetaphyseal dysplasia, matrilin-3 type

Likely pathogenic 8

Conflicting classifications of pathogenicity 22

  • c.223+8C>A Single submitter multiple epiphyseal dysplasia type 5
  • p.Ala264= Single submitter multiple epiphyseal dysplasia type 5
  • p.Arg108Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg121Gln Single submitter MATN3-related disorder ⚠
  • p.Arg50= Single submitter multiple epiphyseal dysplasia type 5
  • p.Arg92His Single submitter multiple epiphyseal dysplasia type 5 ⚠
  • p.Asp171= Single submitter connective tissue disorder
  • p.Asp471Ala Single submitter Inborn genetic diseases ⚠
  • p.Gln274= Single submitter multiple epiphyseal dysplasia type 5
  • p.Gly355= Single submitter multiple epiphyseal dysplasia type 5
  • p.His361Gln Single submitter Inborn genetic diseases
  • p.Ile110= Single submitter connective tissue disorder
  • p.Leu21Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro117Ser Single submitter multiple epiphyseal dysplasia type 5 ⚠
  • p.Pro30= Single submitter
  • p.Pro44= Single submitter
  • p.Ser398Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser63Ala Single submitter connective tissue disorder ⚠
  • p.Tyr218Cys Single submitter multiple epiphyseal dysplasia type 5 ⚠
  • p.Val222Met Single submitter multiple epiphyseal dysplasia type 5 ⚠
  • p.Val245Met Single submitter multiple epiphyseal dysplasia type 5 ⚠
  • p.Val458Asp Single submitter Inborn genetic diseases ⚠

Benign 23

Benign/Likely benign 7

  • c.1406-4C>T Multiple submitters multiple epiphyseal dysplasia type 5
  • p.Ala118= Multiple submitters multiple epiphyseal dysplasia type 5
  • p.Arg391Cys Multiple submitters multiple epiphyseal dysplasia type 5
  • p.Glu252Lys Multiple submitters connective tissue disorder
  • p.Gly221= Multiple submitters
  • p.Thr303Met Multiple submitters multiple epiphyseal dysplasia type 5 ⚠
  • p.Tyr295= Multiple submitters

Likely benign 80

Uncertain significance 229