DAAM2 — 247 ClinVar variants

All ClinVar germline DAAM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 20 Benign · 38 Likely benign · 182 Uncertain significance

Full DAAM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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 1

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

Predictors lean, ClinVar uncertain 100

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

Predictors split 84

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

All DAAM2 variants

Pathogenic 3

  • p.Arg335Gln No assertion criteria nephrotic syndrome, type 24
  • p.Arg445Ter No assertion criteria nephrotic syndrome, type 24
  • p.Glu121Gln No assertion criteria nephrotic syndrome, type 24 ⚠

Likely pathogenic 2

  • p.Arg66Ter Single submitter nephrotic syndrome, type 24
  • p.Gly1020Ter Single submitter nephrotic syndrome, type 24

Conflicting classifications of pathogenicity 2

Benign 20

Likely benign 38

  • c.258+31C>T Single submitter
  • c.2983-21T>G Single submitter
  • c.*2409G>T Single submitter sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
  • p.Ala45Thr Single submitter Inborn genetic diseases
  • p.Arg414Gln Single submitter
  • p.Arg597Cys Single submitter Inborn genetic diseases
  • p.Arg886= Single submitter
  • p.Gln447Glu Single submitter
  • p.Glu894= Single submitter Inborn genetic diseases
  • p.Phe17= Single submitter
  • p.Pro3Ser Single submitter Inborn genetic diseases
  • p.Val591Ile Single submitter Inborn genetic diseases
  • c.1845+7A>G No assertion criteria DAAM2-related disorder
  • c.2342-10C>T No assertion criteria DAAM2-related disorder
  • c.2982+10_2982+34del No assertion criteria DAAM2-related disorder
  • c.2983-4G>A No assertion criteria DAAM2-related disorder
  • c.2983-8G>C No assertion criteria DAAM2-related disorder
  • p.Ala1054Thr No assertion criteria DAAM2-related disorder
  • p.Arg633= No assertion criteria DAAM2-related disorder
  • p.Arg990Leu No assertion criteria DAAM2-related disorder ⚠
  • p.Asn44= No assertion criteria DAAM2-related disorder
  • p.Asp753Gly No assertion criteria DAAM2-related disorder
  • p.Gly527= No assertion criteria DAAM2-related disorder
  • p.Gly887= No assertion criteria DAAM2-related disorder
  • p.Ile856Thr No assertion criteria DAAM2-related disorder ⚠
  • p.Leu401= No assertion criteria DAAM2-related disorder
  • p.Leu579= No assertion criteria DAAM2-related disorder
  • p.Lys776Thr No assertion criteria DAAM2-related disorder ⚠
  • p.Phe331= No assertion criteria DAAM2-related disorder
  • p.Phe938= No assertion criteria DAAM2-related disorder
  • p.Pro3= No assertion criteria DAAM2-related disorder
  • p.Pro43= No assertion criteria DAAM2-related disorder
  • p.Pro555Leu No assertion criteria DAAM2-related disorder ⚠
  • p.Pro556= No assertion criteria DAAM2-related disorder
  • p.Ser279Phe No assertion criteria DAAM2-related disorder
  • p.Ser914= No assertion criteria DAAM2-related disorder
  • p.Ser925= No assertion criteria DAAM2-related disorder
  • p.Thr123= No assertion criteria DAAM2-related disorder

Uncertain significance 182