Sugi Variant

Sugi Variant/TENM3

TENM3 — 672 ClinVar variants

All ClinVar germline TENM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 378 flagged for review →

5 Pathogenic · 9 Likely pathogenic · 6 Conflicting · 116 Benign · 19 Benign/Likely benign · 119 Likely benign · 398 Uncertain significance

Full TENM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 378

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 5

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

Predictors lean, ClinVar uncertain 256

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 256

Predictors split 117

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

All TENM3 variants

Pathogenic 5

  • p.Arg520Ter Single submitter microphthalmia, isolated, with coloboma 9
  • p.Trp760Ter Single submitter microphthalmia, isolated, with coloboma 9
  • c.2968-2A>T No assertion criteria MICROPHTHALMIA, SYNDROMIC 15
  • p.Cys619Ter No assertion criteria MICROPHTHALMIA, SYNDROMIC 15
  • p.Thr695fs No assertion criteria microphthalmia, isolated, with coloboma 9

Likely pathogenic 9

  • c.7214-1G>A Single submitter
  • p.Ala1179fs Single submitter TENM3-related disorder
  • p.Ala1349Gly Single submitter microphthalmia, isolated, with coloboma 9
  • p.Arg1834Ter Single submitter microphthalmia, isolated, with coloboma 9
  • p.Arg2563Trp Single submitter microphthalmia, isolated, with coloboma 9
  • p.Gln2003fs Single submitter microphthalmia, isolated, with coloboma 9
  • p.Gln2247Ter Single submitter TENM3-related disorder
  • p.Gly374fs Single submitter microphthalmia, isolated, with coloboma 9
  • p.Tyr1239Ter Single submitter

Conflicting classifications of pathogenicity 6

Benign 116

Benign/Likely benign 19

Likely benign 119

Uncertain significance 398

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