Sugi Variant

Sugi Variant/TMEM231

TMEM231 — 490 ClinVar variants

All ClinVar germline TMEM231 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →

21 Pathogenic · 13 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 34 Conflicting · 26 Benign · 8 Benign/Likely benign · 153 Likely benign · 221 Uncertain significance

Full TMEM231 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 169

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 2

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 120

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

Predictors split 34

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

All TMEM231 variants

Pathogenic 21

Pathogenic/Likely pathogenic 13

Likely pathogenic 14

  • p.Trp83Gly Multiple submitters Joubert syndrome 20
  • c.140-30A>C Single submitter Joubert syndrome 20
  • c.310-2A>G Single submitter Meckel syndrome, type 11
  • c.439-1G>C Single submitter Meckel syndrome, type 11
  • c.439-33_538del Single submitter Meckel syndrome, type 11
  • c.470_474del Single submitter Joubert syndrome 20
  • c.582+2T>G Single submitter Meckel syndrome, type 11
  • c.-11G>T Single submitter
  • p.Ala31fs Single submitter Meckel syndrome, type 11
  • p.Gln272Pro Single submitter Joubert syndrome and related disorders
  • p.Gly94fs Single submitter Joubert syndrome and related disorders
  • p.Ile232fs Single submitter Meckel syndrome, type 11
  • p.Leu40fs Single submitter Meckel syndrome, type 11
  • p.Tyr251Ter Single submitter Meckel syndrome, type 11

Conflicting classifications of pathogenicity 34

Benign 26

Benign/Likely benign 8

  • c.582+8C>G Multiple submitters Meckel syndrome, type 11
  • c.-40C>G Multiple submitters Meckel syndrome, type 11
  • p.Ala157= Multiple submitters Joubert syndrome 20
  • p.Asp309Glu Multiple submitters Joubert syndrome 20
  • p.Leu310Val Multiple submitters Joubert syndrome 20
  • p.Leu6Val Multiple submitters Meckel syndrome, type 11
  • p.Phe268= Multiple submitters Joubert syndrome 20
  • p.Val271= Multiple submitters Meckel syndrome, type 11

Likely benign 153

Uncertain significance 221