SLC3A2 — 61 ClinVar variants
All ClinVar germline SLC3A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
4 Benign · 1 Benign/Likely benign · 10 Likely benign · 46 Uncertain significance
Full SLC3A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC3A2 p.Ala346Ser Uncertain significance Single submitter
- SLC3A2 p.Ala346Thr Uncertain significance Single submitter
- SLC3A2 p.Ala492Gly Uncertain significance Single submitter
- SLC3A2 p.Ala8Val Uncertain significance Single submitter
- SLC3A2 p.Arg202His Uncertain significance Single submitter
- SLC3A2 p.Arg247Gln Uncertain significance Single submitter
- SLC3A2 p.Arg423Gln Uncertain significance Single submitter
- SLC3A2 p.Arg461His Uncertain significance Single submitter
- SLC3A2 p.Arg502His Uncertain significance Single submitter
- SLC3A2 p.Arg524His Uncertain significance Single submitter
- SLC3A2 p.Asn251Lys Uncertain significance Single submitter
- SLC3A2 p.Asp283Asn Uncertain significance Single submitter
- SLC3A2 p.Asp481Asn Uncertain significance Single submitter
- SLC3A2 p.Gln18Arg Uncertain significance Single submitter
- SLC3A2 p.Gly27Val Uncertain significance Single submitter
- SLC3A2 p.Ile276Thr Uncertain significance Single submitter
- SLC3A2 p.Ile276Val Uncertain significance Single submitter
- SLC3A2 p.Leu291Phe Uncertain significance Single submitter
- SLC3A2 p.Leu510Val Uncertain significance Single submitter
- SLC3A2 p.Leu515Pro Uncertain significance Single submitter
- SLC3A2 p.Met383Ile Uncertain significance Single submitter
- SLC3A2 p.Phe258Val Uncertain significance Single submitter
- SLC3A2 p.Pro6Leu Uncertain significance Single submitter
- SLC3A2 p.Ser24Pro Uncertain significance Single submitter
- SLC3A2 p.Ser301Ile Uncertain significance Single submitter
- SLC3A2 p.Ser474Leu Uncertain significance Single submitter
- SLC3A2 p.Ser485Arg Uncertain significance Single submitter
- SLC3A2 p.Val12Phe Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SLC3A2 p.Arg338Met Likely benign Multiple submitters
- SLC3A2 p.Arg424Trp Uncertain significance Single submitter
- SLC3A2 p.Arg433Cys Uncertain significance Single submitter
- SLC3A2 p.Asp470Tyr Uncertain significance Single submitter
- SLC3A2 p.His437Leu Uncertain significance Single submitter
- SLC3A2 p.Ile371Val Uncertain significance Single submitter
- SLC3A2 p.Leu299Phe Uncertain significance Single submitter
- SLC3A2 p.Leu351Val Uncertain significance Single submitter
- SLC3A2 p.Phe218Leu Uncertain significance Single submitter
- SLC3A2 p.Phe440Leu Uncertain significance Single submitter
- SLC3A2 p.Ser434Thr Uncertain significance Single submitter
- SLC3A2 p.Val241Met Uncertain significance Single submitter
All SLC3A2 variants
Benign 4
- c.301+3G>A Multiple submitters
- p.Leu435= Multiple submitters
- p.Lys491Gln Multiple submitters
- c.112+8A>T Single submitter
Benign/Likely benign 1
- p.Pro415Ser Multiple submitters
Likely benign 10
- p.Arg338Met Multiple submitters ⚠
- p.Ala442= Single submitter
- p.Ala528Val Single submitter
- p.Arg424Gln Single submitter
- p.Asn327Ser Single submitter
- p.Glu2= Single submitter
- p.Lys228= Single submitter
- p.Met383Val Single submitter
- p.Ser342= Single submitter
- p.Ala528= No assertion criteria SLC3A2-related disorder
Uncertain significance 46
- p.Ala346Ser Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala492Gly Single submitter ⚠
- p.Ala79Asp Single submitter
- p.Ala8Val Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Arg247Gln Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg424Trp Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg502His Single submitter ⚠
- p.Arg524His Single submitter ⚠
- p.Asn251Lys Single submitter ⚠
- p.Asp283Asn Single submitter ⚠
- p.Asp470Tyr Single submitter ⚠
- p.Asp481Asn Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Gln263Pro Single submitter
- p.Gly27Val Single submitter ⚠
- p.His437Leu Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile371Val Single submitter ⚠
- p.Ile87Thr Single submitter
- p.Ile87Val Single submitter
- p.Leu291Phe Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu351Val Single submitter ⚠
- p.Leu510Val Single submitter ⚠
- p.Leu515Pro Single submitter ⚠
- p.Met355Ile Single submitter
- p.Met383Ile Single submitter ⚠
- p.Phe218Leu Single submitter ⚠
- p.Phe258Val Single submitter ⚠
- p.Phe269Leu Single submitter
- p.Phe440Leu Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Ser24Pro Single submitter ⚠
- p.Ser301Ile Single submitter ⚠
- p.Ser434Thr Single submitter ⚠
- p.Ser474Leu Single submitter ⚠
- p.Ser485Arg Single submitter ⚠
- p.Ser92Trp Single submitter
- p.Val12Phe Single submitter ⚠
- p.Val241Met Single submitter ⚠