Sugi Variant

Sugi Variant/RMND1

RMND1 — 380 ClinVar variants

All ClinVar germline RMND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

22 Pathogenic · 9 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 14 Conflicting · 48 Benign · 7 Benign/Likely benign · 116 Likely benign · 142 Uncertain significance

Full RMND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 4

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

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 99

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

Predictors split 17

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

All RMND1 variants

Pathogenic 22

Pathogenic/Likely pathogenic 9

  • c.504+1G>A Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Arg23Ter Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Arg284fs Multiple submitters
  • p.Arg417Gln Multiple submitters RMND1-related disorder ⚠
  • p.Leu412fs Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Lys405fs Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Pro162fs Multiple submitters RMND1-related disorder
  • p.Ter450Arg Multiple submitters RMND1-related disorder
  • p.Ter450Ser Multiple submitters Inborn genetic diseases

Likely pathogenic 22

  • p.Asp205Tyr Multiple submitters RMND1-related disorder ⚠
  • p.Thr97_Met98insTer Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Tyr196Ter Multiple submitters combined oxidative phosphorylation defect type 11
  • p.Val211fs Multiple submitters combined oxidative phosphorylation defect type 11
  • c.1002+2T>C Single submitter RMND1-related disorder
  • c.1200+1G>A Single submitter
  • c.1200+2T>C Single submitter combined oxidative phosphorylation defect type 11
  • c.1317+1G>A Single submitter
  • c.729+1G>A Single submitter combined oxidative phosphorylation defect type 11
  • c.830+1G>A Single submitter RMND1-related disorder
  • c.831-2_831-1del Single submitter combined oxidative phosphorylation defect type 11
  • p.Asp414Ter Single submitter RMND1-related disorder
  • p.Gln155fs Single submitter combined oxidative phosphorylation defect type 11
  • p.Glu429fs Single submitter combined oxidative phosphorylation defect type 11
  • p.Ile287Phe Single submitter combined oxidative phosphorylation defect type 11 ⚠
  • p.Leu164_Ser165insTer Single submitter
  • p.Thr243fs Single submitter combined oxidative phosphorylation defect type 11
  • p.Thr77fs Single submitter combined oxidative phosphorylation defect type 11
  • p.Tyr376Ter Single submitter combined oxidative phosphorylation defect type 11
  • p.Val130fs Single submitter combined oxidative phosphorylation defect type 11
  • p.Val211Met Single submitter combined oxidative phosphorylation defect type 11 ⚠
  • p.Pro373His No assertion criteria Autosomal recessive Combined oxidative phosphorylation deficiency 11

Conflicting classifications of pathogenicity 14

Benign 48

Benign/Likely benign 7

Likely benign 116

Uncertain significance 142