SLC29A1 — 55 ClinVar variants
All ClinVar germline SLC29A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 4 Benign · 7 Likely benign · 43 Uncertain significance
Full SLC29A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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.
-
SLC29A1 p.Thr387Pro
Pathogenic
No assertion criteria
fetal erythroblastosis
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC29A1 p.Ala136Val Uncertain significance Single submitter
- SLC29A1 p.Ala367Ser Uncertain significance Single submitter
- SLC29A1 p.Ala402Val Uncertain significance Single submitter
- SLC29A1 p.Ala60Gly Uncertain significance Single submitter
- SLC29A1 p.Ala65Val Uncertain significance Single submitter
- SLC29A1 p.Arg326His Uncertain significance Single submitter
- SLC29A1 p.Arg73Gln Uncertain significance Single submitter
- SLC29A1 p.Asn379Ile Uncertain significance Single submitter
- SLC29A1 p.Gly159Asp Uncertain significance Single submitter
- SLC29A1 p.Gly225Ser Uncertain significance Single submitter
- SLC29A1 p.Ile125Met Uncertain significance Single submitter
- SLC29A1 p.Ile142Val Uncertain significance Single submitter
- SLC29A1 p.Ile147Thr Uncertain significance Single submitter
- SLC29A1 p.Ile221Val Uncertain significance Single submitter
- SLC29A1 p.Leu343Phe Uncertain significance Single submitter
- SLC29A1 p.Met20Ile Uncertain significance Single submitter
- SLC29A1 p.Phe231Ser Uncertain significance Single submitter
- SLC29A1 p.Pro243Arg Uncertain significance Single submitter
- SLC29A1 p.Pro419Leu Uncertain significance Single submitter
- SLC29A1 p.Pro66Thr Uncertain significance Single submitter
- SLC29A1 p.Ser100Phe Uncertain significance Single submitter
- SLC29A1 p.Ser109Phe Uncertain significance Single submitter
- SLC29A1 p.Ser109Pro Uncertain significance Single submitter
- SLC29A1 p.Ser269Thr Uncertain significance Single submitter
- SLC29A1 p.Ser317Gly Uncertain significance Single submitter
- SLC29A1 p.Ser363Gly Uncertain significance Single submitter
- SLC29A1 p.Thr276Ala Uncertain significance Single submitter
- SLC29A1 p.Thr336Ile Uncertain significance Single submitter
- SLC29A1 p.Val189Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- SLC29A1 p.Ala446Val Uncertain significance Single submitter
- SLC29A1 p.Arg383Cys Uncertain significance Single submitter
- SLC29A1 p.Ile147Met Uncertain significance Single submitter
- SLC29A1 p.Leu116Val Uncertain significance Single submitter
- SLC29A1 p.Ser77Asn Uncertain significance Single submitter
- SLC29A1 p.Thr173Met Uncertain significance Single submitter
- SLC29A1 p.Thr25Met Uncertain significance Single submitter
- SLC29A1 p.Val148Met Likely benign Single submitter
- SLC29A1 p.Val422Ala Uncertain significance Single submitter
All SLC29A1 variants
Pathogenic 1
- p.Thr387Pro No assertion criteria fetal erythroblastosis ⚠
Benign 4
- c.590-9C>T Single submitter
- c.767-5C>T Single submitter
- c.864+4C>T Single submitter
- p.Pro28= Single submitter
Likely benign 7
- c.1260-7C>T Single submitter
- p.Ala65Thr Single submitter
- p.Asn272Ser Single submitter
- p.Phe206= Single submitter
- p.Val148Met Single submitter ⚠
- c.87-8T>A No assertion criteria SLC29A1-related disorder
- c.-52+8C>T No assertion criteria SLC29A1-related disorder
Uncertain significance 43
- p.Ala136Val Single submitter ⚠
- p.Ala367Ser Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala60Gly Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg383Cys Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Asn379Ile Single submitter ⚠
- p.Gln274Ter Single submitter
- p.Gly159Asp Single submitter ⚠
- p.Gly225Ser Single submitter ⚠
- p.Ile125Met Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile147Met Single submitter ⚠
- p.Ile147Thr Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile304Phe Single submitter
- p.Leu116Val Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Met20Ile Single submitter ⚠
- p.Phe231Ser Single submitter ⚠
- p.Pro243Arg Single submitter ⚠
- p.Pro354Leu Single submitter
- p.Pro419Leu Single submitter ⚠
- p.Pro66Thr Single submitter ⚠
- p.Ser100Phe Single submitter ⚠
- p.Ser109Phe Single submitter ⚠
- p.Ser109Pro Single submitter ⚠
- p.Ser197Asn Single submitter
- p.Ser269Thr Single submitter ⚠
- p.Ser317Gly Single submitter ⚠
- p.Ser363Gly Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr173Met Single submitter ⚠
- p.Thr25Met Single submitter ⚠
- p.Thr276Ala Single submitter ⚠
- p.Thr301Asn Single submitter
- p.Thr336Ile Single submitter ⚠
- p.Trp324Ter Single submitter
- p.Val189Met Single submitter ⚠
- p.Val422Ala Single submitter ⚠