Sugi Variant

Sugi Variant/DNAJC12

DNAJC12 — 119 ClinVar variants

All ClinVar germline DNAJC12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

16 Pathogenic · 4 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 3 Conflicting · 19 Benign · 2 Benign/Likely benign · 26 Likely benign · 47 Uncertain significance

Full DNAJC12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 2

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

Predictors lean, ClinVar uncertain 32

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

Predictors split 14

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

All DNAJC12 variants

Pathogenic 16

  • p.Trp175Ter Multiple submitters Inborn genetic diseases
  • c.157+2T>C Single submitter hyperphenylalaninemia due to DNAJC12 deficiency
  • c.502+1G>A Single submitter
  • c.502+1G>C Single submitter hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Arg79Ter Single submitter
  • p.Glu138fs Single submitter hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Lys63Ter Single submitter hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Thr12fs Single submitter
  • c.158-2A>T No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • c.298-2A>C No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • c.298-968_503-2603del No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • c.79-2A>G No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Arg72Pro No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Gly20fs No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Ter199Leu No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Trp103Cys No assertion criteria hyperphenylalaninemia due to DNAJC12 deficiency ⚠

Pathogenic/Likely pathogenic 4

  • p.Arg72Ter Multiple submitters hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Gln162Ter Multiple submitters
  • p.Gln29fs Multiple submitters hyperphenylalaninemia due to DNAJC12 deficiency
  • p.Lys137fs Multiple submitters hyperphenylalaninemia due to DNAJC12 deficiency

Likely pathogenic 2

Conflicting classifications of pathogenicity 3

Benign 19

Benign/Likely benign 2

Likely benign 26

Uncertain significance 47