ALDH3A1 — 47 ClinVar variants
All ClinVar germline ALDH3A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely pathogenic · 5 Benign · 4 Likely benign · 37 Uncertain significance
Full ALDH3A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALDH3A1 p.Ala312Thr Uncertain significance Single submitter
- ALDH3A1 p.Glu43Lys Uncertain significance Single submitter
- ALDH3A1 p.His394Arg Uncertain significance Single submitter
- ALDH3A1 p.Ile195Asn Uncertain significance Single submitter
- ALDH3A1 p.Ile232Thr Uncertain significance Single submitter
- ALDH3A1 p.Leu264His Uncertain significance Single submitter
- ALDH3A1 p.Lys221Gln Uncertain significance Single submitter
- ALDH3A1 p.Pro117Ser Uncertain significance Single submitter
- ALDH3A1 p.Pro139Ser Uncertain significance Single submitter
- ALDH3A1 p.Thr187Met Uncertain significance Single submitter
- ALDH3A1 p.Thr205Ala Uncertain significance Single submitter
- ALDH3A1 p.Thr205Asn Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- ALDH3A1 p.Gly300Asp Benign Multiple submitters
- ALDH3A1 p.Ala128Ser Uncertain significance Single submitter
- ALDH3A1 p.Ala14Thr Uncertain significance Single submitter
- ALDH3A1 p.Ala233Thr Likely benign Single submitter
- ALDH3A1 p.Ala32Thr Likely benign Single submitter
- ALDH3A1 p.Arg21Cys Uncertain significance Single submitter
- ALDH3A1 p.Arg280Trp Uncertain significance Single submitter
- ALDH3A1 p.Asp224Glu Uncertain significance Single submitter
- ALDH3A1 p.Gln327Pro Uncertain significance Single submitter
- ALDH3A1 p.Glu144Lys Uncertain significance Single submitter
- ALDH3A1 p.Glu359Lys Uncertain significance Single submitter
- ALDH3A1 p.Glu43Asp Likely benign Single submitter
- ALDH3A1 p.Gly273Arg Uncertain significance Single submitter
- ALDH3A1 p.Gly309Arg Uncertain significance Single submitter
- ALDH3A1 p.His453Tyr Uncertain significance Single submitter
- ALDH3A1 p.Leu162Val Uncertain significance Single submitter
- ALDH3A1 p.Leu264Val Uncertain significance Single submitter
- ALDH3A1 p.Leu439Arg Uncertain significance Single submitter
- ALDH3A1 p.Lys214Arg Uncertain significance Single submitter
- ALDH3A1 p.Pro139Leu Uncertain significance Single submitter
- ALDH3A1 p.Pro329Leu Uncertain significance Single submitter
- ALDH3A1 p.Ser255Trp Uncertain significance Single submitter
- ALDH3A1 p.Ser287Gly Uncertain significance Single submitter
- ALDH3A1 p.Ser2Asn Uncertain significance Single submitter
- ALDH3A1 p.Thr121Ile Uncertain significance Single submitter
- ALDH3A1 p.Thr174Met Uncertain significance Single submitter
- ALDH3A1 p.Thr208Met Uncertain significance Single submitter
- ALDH3A1 p.Thr421Asn Uncertain significance Single submitter
- ALDH3A1 p.Val45Gly Uncertain significance Single submitter
All ALDH3A1 variants
Likely pathogenic 1
- p.Gly235Arg No assertion criteria keratoconus
Benign 5
Likely benign 4
- p.Ala233Thr Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Glu43Asp Single submitter ⚠
- p.Ile342= Single submitter
Uncertain significance 37
- p.Ala128Ser Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala312Thr Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Asp224Glu Single submitter ⚠
- p.Gln327Pro Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu359Lys Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly309Arg Single submitter ⚠
- p.His394Arg Single submitter ⚠
- p.His453Tyr Single submitter ⚠
- p.Ile195Asn Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Leu162Val Single submitter ⚠
- p.Leu264His Single submitter ⚠
- p.Leu264Val Single submitter ⚠
- p.Leu439Arg Single submitter ⚠
- p.Lys214Arg Single submitter ⚠
- p.Lys221Gln Single submitter ⚠
- p.Pro117Ser Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro329Leu Single submitter ⚠
- p.Ser255Trp Single submitter ⚠
- p.Ser287Gly Single submitter ⚠
- p.Ser2Asn Single submitter ⚠
- p.Thr121Ile Single submitter ⚠
- p.Thr174Met Single submitter ⚠
- p.Thr187Met Single submitter ⚠
- p.Thr205Ala Single submitter ⚠
- p.Thr205Asn Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Thr421Asn Single submitter ⚠
- p.Val45Gly Single submitter ⚠