Sugi Variant

Sugi Variant/PITRM1

PITRM1 — 475 ClinVar variants

All ClinVar germline PITRM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 232 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 17 Conflicting · 37 Benign · 20 Benign/Likely benign · 157 Likely benign · 240 Uncertain significance

Full PITRM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 232

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 13

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

Predictors lean, ClinVar uncertain 168

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 168

Predictors split 51

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

All PITRM1 variants

Pathogenic 1

  • c.2236-1dup No assertion criteria mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Pathogenic/Likely pathogenic 1

  • p.Thr931Met Multiple submitters spinocerebellar ataxia, autosomal recessive 30

Likely pathogenic 2

Conflicting classifications of pathogenicity 17

Benign 37

Benign/Likely benign 20

Likely benign 157

Uncertain significance 240