SLC7A1 — 64 ClinVar variants
All ClinVar germline SLC7A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
6 Benign · 5 Likely benign · 53 Uncertain significance
Full SLC7A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC7A1 p.Ala129Gly Uncertain significance Single submitter
- SLC7A1 p.Ala292Val Uncertain significance Single submitter
- SLC7A1 p.Ala611Ser Uncertain significance Single submitter
- SLC7A1 p.Asn234Asp Uncertain significance Single submitter
- SLC7A1 p.Asn379Ser Uncertain significance Single submitter
- SLC7A1 p.Asn8Ser Uncertain significance Single submitter
- SLC7A1 p.Asp165Asn Uncertain significance Single submitter
- SLC7A1 p.Asp325Asn Uncertain significance Single submitter
- SLC7A1 p.Asp616His Uncertain significance Single submitter
- SLC7A1 p.Glu277Lys Uncertain significance Single submitter
- SLC7A1 p.Glu60Gly Uncertain significance Single submitter
- SLC7A1 p.Gly114Ser Uncertain significance Single submitter
- SLC7A1 p.Gly158Ser Uncertain significance Single submitter
- SLC7A1 p.Gly240Glu Uncertain significance Single submitter
- SLC7A1 p.Gly251Arg Uncertain significance Single submitter
- SLC7A1 p.Gly623Ser Uncertain significance Single submitter
- SLC7A1 p.Gly63Ser Uncertain significance Single submitter
- SLC7A1 p.Ile112Val Uncertain significance Single submitter
- SLC7A1 p.Ile174Thr Uncertain significance Single submitter
- SLC7A1 p.Ile290Val Uncertain significance Single submitter
- SLC7A1 p.Ile503Leu Uncertain significance Single submitter
- SLC7A1 p.Ile508Thr Uncertain significance Single submitter
- SLC7A1 p.Ile571Thr Uncertain significance Single submitter
- SLC7A1 p.Ile9Thr Uncertain significance Single submitter
- SLC7A1 p.Leu173Ile Uncertain significance Single submitter
- SLC7A1 p.Leu428Ser Uncertain significance Single submitter
- SLC7A1 p.Leu516Phe Uncertain significance Single submitter
- SLC7A1 p.Pro561Ala Uncertain significance Single submitter
- SLC7A1 p.Ser148Leu Uncertain significance Single submitter
- SLC7A1 p.Ser186Leu Uncertain significance Single submitter
- SLC7A1 p.Ser492Thr Uncertain significance Single submitter
- SLC7A1 p.Ser552Asn Uncertain significance Single submitter
- SLC7A1 p.Thr309Met Uncertain significance Single submitter
- SLC7A1 p.Thr514Asn Uncertain significance Single submitter
- SLC7A1 p.Thr522Asn Uncertain significance Single submitter
- SLC7A1 p.Thr543Met Uncertain significance Single submitter
- SLC7A1 p.Thr94Met Uncertain significance Single submitter
- SLC7A1 p.Trp586Cys Uncertain significance Single submitter
- SLC7A1 p.Val198Ile Uncertain significance Single submitter
- SLC7A1 p.Val288Met Uncertain significance Single submitter
- SLC7A1 p.Val440Ala Uncertain significance Single submitter
- SLC7A1 p.Val440Ile Uncertain significance Single submitter
- SLC7A1 p.Val541Met Uncertain significance Single submitter
- SLC7A1 p.Val575Ile Uncertain significance Single submitter
- SLC7A1 p.Val5Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- SLC7A1 p.Phe374Tyr Uncertain significance Single submitter
- SLC7A1 p.Thr220Met Uncertain significance Single submitter
- SLC7A1 p.Thr34Ala Uncertain significance Single submitter
- SLC7A1 p.Thr34Ile Uncertain significance Single submitter
- SLC7A1 p.Tyr576Cys Uncertain significance Single submitter
- SLC7A1 p.Val513Leu Uncertain significance Single submitter
- SLC7A1 p.Val515Met Uncertain significance Single submitter
All SLC7A1 variants
Benign 6
Likely benign 5
- p.Arg142Lys Single submitter
- p.Arg230His Single submitter
- p.Arg90= Single submitter
- p.Asn462Ser Single submitter
- p.Ile299= Single submitter
Uncertain significance 53
- p.Ala129Gly Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala533Pro Single submitter
- p.Ala611Ser Single submitter ⚠
- p.Asn234Asp Single submitter ⚠
- p.Asn379Ser Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asp165Asn Single submitter ⚠
- p.Asp325Asn Single submitter ⚠
- p.Asp616His Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu60Gly Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly158Ser Single submitter ⚠
- p.Gly240Glu Single submitter ⚠
- p.Gly251Arg Single submitter ⚠
- p.Gly623Ser Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile290Val Single submitter ⚠
- p.Ile503Leu Single submitter ⚠
- p.Ile508Thr Single submitter ⚠
- p.Ile571Thr Single submitter ⚠
- p.Ile9Thr Single submitter ⚠
- p.Leu173Ile Single submitter ⚠
- p.Leu428Ser Single submitter ⚠
- p.Leu516Phe Single submitter ⚠
- p.Phe374Tyr Single submitter ⚠
- p.Pro561Ala Single submitter ⚠
- p.Ser148Leu Single submitter ⚠
- p.Ser186Leu Single submitter ⚠
- p.Ser492Thr Single submitter ⚠
- p.Ser552Asn Single submitter ⚠
- p.Thr220Met Single submitter ⚠
- p.Thr309Met Single submitter ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr34Ile Single submitter ⚠
- p.Thr514Asn Single submitter ⚠
- p.Thr522Asn Single submitter ⚠
- p.Thr543Met Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Trp586Cys Single submitter ⚠
- p.Tyr576Cys Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val288Met Single submitter ⚠
- p.Val440Ala Single submitter ⚠
- p.Val440Ile Single submitter ⚠
- p.Val513Leu Single submitter ⚠
- p.Val515Met Single submitter ⚠
- p.Val541Met Single submitter ⚠
- p.Val575Ile Single submitter ⚠
- p.Val5Ile Single submitter ⚠