Sugi Variant

Sugi Variant/DNAJC3

DNAJC3 — 84 ClinVar variants

All ClinVar germline DNAJC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 3 Conflicting · 2 Benign · 3 Benign/Likely benign · 14 Likely benign · 53 Uncertain significance

Full DNAJC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 20

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

Predictors split 35

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

All DNAJC3 variants

Pathogenic 5

  • p.Ser146fs Single submitter juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • c.393+2T>C No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • c.393+2T>G No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • p.Arg346Ter No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • p.Met1Val No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Pathogenic/Likely pathogenic 1

  • p.Arg393Ter Multiple submitters Syndromic Monogenic Diabetes

Likely pathogenic 3

  • p.Glu436fs Single submitter juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • p.Lys433fs Single submitter Inborn genetic diseases
  • p.Lys456fs Single submitter juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Conflicting classifications of pathogenicity 3

  • p.Ala224Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg415Ter Single submitter juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • p.Arg194Ter No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Benign 2

Benign/Likely benign 3

Likely benign 14

Uncertain significance 53