DDAH1 — 35 ClinVar variants
All ClinVar germline DDAH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Benign · 1 Likely benign · 33 Uncertain significance
Full DDAH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDAH1 p.Ala33Gly Uncertain significance Single submitter
- DDAH1 p.Arg237Gln Uncertain significance Single submitter
- DDAH1 p.Arg92Gly Uncertain significance Single submitter
- DDAH1 p.Arg92Pro Uncertain significance Single submitter
- DDAH1 p.Arg98Gly Uncertain significance Single submitter
- DDAH1 p.Arg99Gly Uncertain significance Single submitter
- DDAH1 p.Asp210Asn Uncertain significance Single submitter
- DDAH1 p.Gln61Arg Uncertain significance Single submitter
- DDAH1 p.Glu192Gln Uncertain significance Single submitter
- DDAH1 p.Glu69Asp Uncertain significance Single submitter
- DDAH1 p.Gly128Val Uncertain significance Single submitter
- DDAH1 p.His173Arg Uncertain significance Single submitter
- DDAH1 p.His207Tyr Uncertain significance Single submitter
- DDAH1 p.Ile218Thr Uncertain significance Single submitter
- DDAH1 p.Leu65Pro Uncertain significance Single submitter
- DDAH1 p.Lys100Thr Uncertain significance Single submitter
- DDAH1 p.Met256Val Uncertain significance Single submitter
- DDAH1 p.Met262Ile Uncertain significance Single submitter
- DDAH1 p.Pro7Arg Uncertain significance Single submitter
- DDAH1 p.Pro93Ala Uncertain significance Single submitter
- DDAH1 p.Ser193Pro Uncertain significance Single submitter
- DDAH1 p.Val17Leu Uncertain significance Single submitter
- DDAH1 p.Val233Ile Uncertain significance Single submitter
- DDAH1 p.Val40Ala Uncertain significance Single submitter
- DDAH1 p.Val53Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DDAH1 variants
Benign 1
- c.-7+30723_-7+30726dup Single submitter
Likely benign 1
- p.Glu36Asp Single submitter
Uncertain significance 33
- p.Ala162Thr Single submitter
- p.Ala33Gly Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg208Gly Single submitter
- p.Arg237Gln Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Arg92Pro Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Arg99Gly Single submitter ⚠
- p.Asp210Asn Single submitter ⚠
- p.Gln61Arg Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu240Lys Single submitter
- p.Glu69Asp Single submitter ⚠
- p.Gly128Val Single submitter ⚠
- p.His173Arg Single submitter ⚠
- p.His207Tyr Single submitter ⚠
- p.Ile218Thr Single submitter ⚠
- p.Leu65Pro Single submitter ⚠
- p.Lys100Thr Single submitter ⚠
- p.Met256Val Single submitter ⚠
- p.Met262Ile Single submitter ⚠
- p.Pro215Ser Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro7Arg Single submitter ⚠
- p.Pro93Ala Single submitter ⚠
- p.Ser193Pro Single submitter ⚠
- p.Ser97Asn Single submitter ⚠
- p.Thr165Pro Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Val233Ile Single submitter ⚠
- p.Val40Ala Single submitter ⚠
- p.Val53Ala Single submitter ⚠