Sugi Variant

Sugi Variant/DNAJC30

DNAJC30 — 54 ClinVar variants

All ClinVar germline DNAJC30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Benign · 7 Likely benign · 37 Uncertain significance

Full DNAJC30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 36

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 lean, ClinVar uncertain 23

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

Predictors split 13

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

All DNAJC30 variants

Pathogenic 5

  • p.Glu204Ter No assertion criteria Leber-like hereditary optic neuropathy, autosomal recessive 1
  • p.His77del No assertion criteria Leber-like hereditary optic neuropathy, autosomal recessive 1
  • p.Leu101Gln No assertion criteria Leber-like hereditary optic neuropathy, autosomal recessive 1
  • p.Pro78Ser No assertion criteria Leber-like hereditary optic neuropathy, autosomal recessive 1
  • p.Ser44fs No assertion criteria Leber-like hereditary optic neuropathy, autosomal recessive 1

Pathogenic/Likely pathogenic 1

  • p.Tyr51Cys Multiple submitters Leber hereditary optic neuropathy, autosomal recessive

Likely pathogenic 3

  • p.Trp8Ter Single submitter DNAJC30-related disorder
  • p.Tyr98Ser Single submitter Leber hereditary optic neuropathy, autosomal recessive
  • p.Ser58fs No assertion criteria optic atrophy

Benign 1

Likely benign 7

Uncertain significance 37