Sugi Variant

Sugi Variant/DHX30

DHX30 — 306 ClinVar variants

All ClinVar germline DHX30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 9 Conflicting · 3 Benign · 1 Benign/Likely benign · 75 Likely benign · 199 Uncertain significance

Full DHX30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 202

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 113

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

Predictors split 82

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

All DHX30 variants

Pathogenic 10

  • p.Arg782Trp Multiple submitters neurodevelopmental disorder with severe motor impairment and absent language
  • c.1930-1G>T Single submitter autism, susceptiblity to
  • p.Arg782Gln Single submitter neurodevelopmental disorder with severe motor impairment and absent language
  • p.Gly538Asp Single submitter
  • p.His562Arg Single submitter microcephaly
  • p.His621fs Single submitter Inborn genetic diseases
  • p.Thr464Ala Single submitter neurodevelopmental disorder with severe motor impairment and absent language
  • p.Arg493His No assertion criteria neurodevelopmental disorder with severe motor impairment and absent language
  • p.Arg797Ter No assertion criteria neurodevelopmental disorder with severe motor impairment and absent language
  • p.Gly781Asp No assertion criteria neurodevelopmental disorder with severe motor impairment and absent language

Pathogenic/Likely pathogenic 2

  • p.Arg785Cys Multiple submitters neurodevelopmental disorder with severe motor impairment and absent language
  • p.Arg785His Multiple submitters neurodevelopmental disorder with severe motor impairment and absent language

Likely pathogenic 7

Conflicting classifications of pathogenicity 9

  • c.2575+2dup Single submitter Inborn genetic diseases ⚠
  • p.Arg377Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg908Gln Single submitter neurodevelopmental disorder with severe motor impairment and absent language ⚠
  • p.Asp206Glu Single submitter neurodevelopmental disorder with severe motor impairment and absent language ⚠
  • p.Glu1167Gln Single submitter ⚠
  • p.Pro170Arg Single submitter neurodevelopmental disorder with severe motor impairment and absent language ⚠
  • p.Pro796Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro82Leu Single submitter neurodevelopmental disorder with severe motor impairment and absent language ⚠
  • p.Thr739Ala Single submitter neurodevelopmental disorder with severe motor impairment and absent language ⚠

Benign 3

Benign/Likely benign 1

Likely benign 75

Uncertain significance 199