SLC75A1 — 12 ClinVar variants
All ClinVar germline SLC75A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Likely benign · 10 Uncertain significance
Full SLC75A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC75A1 p.Arg274His Uncertain significance Single submitter
- SLC75A1 p.Gly126Asp Uncertain significance Single submitter
- SLC75A1 p.His53Tyr Uncertain significance Single submitter
- SLC75A1 p.Leu186Met Uncertain significance Single submitter
- SLC75A1 p.Leu43Pro Uncertain significance Single submitter
- SLC75A1 p.Phe210Leu Uncertain significance Single submitter
- SLC75A1 p.Pro348Arg Uncertain significance Single submitter
- SLC75A1 p.Ser85Gly Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All SLC75A1 variants
Likely benign 2
- p.Arg357His Single submitter
- p.Val396Ile Single submitter
Uncertain significance 10
- p.Arg231Trp Single submitter ⚠
- p.Arg274His Single submitter ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly354Ser Single submitter ⚠
- p.His53Tyr Single submitter ⚠
- p.Leu186Met Single submitter ⚠
- p.Leu43Pro Single submitter ⚠
- p.Phe210Leu Single submitter ⚠
- p.Pro348Arg Single submitter ⚠
- p.Ser85Gly Single submitter ⚠