Sugi Variant

Sugi Variant/POLRMT

POLRMT — 492 ClinVar variants

All ClinVar germline POLRMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 340 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 12 Conflicting · 10 Benign · 7 Benign/Likely benign · 83 Likely benign · 357 Uncertain significance

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

⚑ Evidence disagreements 340

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 5

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 279

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 279

Predictors split 48

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

All POLRMT variants

Pathogenic 10

  • p.Cys809fs Single submitter neurodevelopmental disorder
  • p.Pro734fs Single submitter combined oxidative phosphorylation deficiency 55
  • p.Pro810Ser Single submitter combined oxidative phosphorylation deficiency 55 ⚠
  • c.2641-1G>C No assertion criteria combined oxidative phosphorylation deficiency 55
  • p.Arg1013Cys No assertion criteria combined oxidative phosphorylation deficiency 55 ⚠
  • p.Gln149Ter No assertion criteria combined oxidative phosphorylation deficiency 55
  • p.Phe641Leu No assertion criteria combined oxidative phosphorylation deficiency 55 ⚠
  • p.Phe813Ser No assertion criteria combined oxidative phosphorylation deficiency 55
  • p.Pro647Leu No assertion criteria combined oxidative phosphorylation deficiency 55
  • p.Ser611Phe No assertion criteria combined oxidative phosphorylation deficiency 55 ⚠

Pathogenic/Likely pathogenic 1

  • p.Gln681Ter Multiple submitters combined oxidative phosphorylation deficiency 55

Likely pathogenic 12

  • c.3154-2A>G Single submitter
  • c.954-1G>C Single submitter combined oxidative phosphorylation deficiency 55
  • p.Ala911fs Single submitter combined oxidative phosphorylation deficiency 55
  • p.Gln572Ter Single submitter
  • p.Gln585Ter Single submitter combined oxidative phosphorylation deficiency 55
  • p.His250Asp Single submitter combined oxidative phosphorylation deficiency 55 ⚠
  • p.Leu714fs Single submitter combined oxidative phosphorylation deficiency 55
  • p.Lys329fs Single submitter combined oxidative phosphorylation deficiency 55
  • p.Lys859Ter Single submitter
  • p.Met482fs Single submitter
  • p.Ser784Leu Single submitter combined oxidative phosphorylation deficiency 55
  • p.Thr1112fs Single submitter combined oxidative phosphorylation deficiency 55

Conflicting classifications of pathogenicity 12

Benign 10

Benign/Likely benign 7

Likely benign 83

Uncertain significance 357

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