SLC7A5 — 88 ClinVar variants
All ClinVar germline SLC7A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
9 Benign · 11 Likely benign · 68 Uncertain significance
Full SLC7A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC7A5 p.Ala16Thr Uncertain significance Single submitter
- SLC7A5 p.Ala2Val Uncertain significance Single submitter
- SLC7A5 p.Ala32Ser Uncertain significance Single submitter
- SLC7A5 p.Ala388Thr Uncertain significance Single submitter
- SLC7A5 p.Ala434Thr Uncertain significance Single submitter
- SLC7A5 p.Ala448Thr Uncertain significance Single submitter
- SLC7A5 p.Ala90Thr Uncertain significance Single submitter
- SLC7A5 p.Arg141Gln Uncertain significance Single submitter
- SLC7A5 p.Arg48Gln Uncertain significance Single submitter
- SLC7A5 p.Arg8Leu Uncertain significance Single submitter
- SLC7A5 p.Asn186Ser Uncertain significance Single submitter
- SLC7A5 p.Asn480Lys Uncertain significance Single submitter
- SLC7A5 p.Asp33His Uncertain significance Single submitter
- SLC7A5 p.Gln369His Uncertain significance Single submitter
- SLC7A5 p.Gln487Arg Uncertain significance Single submitter
- SLC7A5 p.Glu105Gly Uncertain significance Single submitter
- SLC7A5 p.Gly115Ser Uncertain significance Single submitter
- SLC7A5 p.Gly414Ser Uncertain significance Single submitter
- SLC7A5 p.Gly41Val Uncertain significance Single submitter
- SLC7A5 p.Gly475Arg Uncertain significance Single submitter
- SLC7A5 p.Gly488Val Uncertain significance Single submitter
- SLC7A5 p.Ile440Leu Uncertain significance Single submitter
- SLC7A5 p.Ile440Val Uncertain significance Single submitter
- SLC7A5 p.Ile489Val Uncertain significance Single submitter
- SLC7A5 p.Ile64Val Uncertain significance Single submitter
- SLC7A5 p.Leu11Val Uncertain significance Single submitter
- SLC7A5 p.Leu131Phe Uncertain significance Single submitter
- SLC7A5 p.Leu370Val Uncertain significance Single submitter
- SLC7A5 p.Leu386Pro Uncertain significance Single submitter
- SLC7A5 p.Lys112Thr Uncertain significance Single submitter
- SLC7A5 p.Lys204Asn Uncertain significance Single submitter
- SLC7A5 p.Lys30Asn Uncertain significance Single submitter
- SLC7A5 p.Met120Val Uncertain significance Single submitter
- SLC7A5 p.Met26Leu Uncertain significance Single submitter
- SLC7A5 p.Met500Lys Uncertain significance Single submitter
- SLC7A5 p.Phe350Leu Uncertain significance Single submitter
- SLC7A5 p.Phe439Val Uncertain significance Single submitter
- SLC7A5 p.Pro165Leu Uncertain significance Single submitter
- SLC7A5 p.Pro6Arg Uncertain significance Single submitter
- SLC7A5 p.Ser307Leu Uncertain significance Single submitter
- SLC7A5 p.Ser324Pro Uncertain significance Single submitter
- SLC7A5 p.Ser35Leu Uncertain significance Single submitter
- SLC7A5 p.Ser35Trp Uncertain significance Single submitter
- SLC7A5 p.Thr108Ser Uncertain significance Single submitter
- SLC7A5 p.Thr163Ile Uncertain significance Single submitter
- SLC7A5 p.Thr183Met Uncertain significance Single submitter
- SLC7A5 p.Thr51Ala Uncertain significance Single submitter
- SLC7A5 p.Tyr289His Uncertain significance Single submitter
- SLC7A5 p.Val311Met Uncertain significance Single submitter
- SLC7A5 p.Val313Met Uncertain significance Single submitter
- SLC7A5 p.Val322Ile Uncertain significance Single submitter
- SLC7A5 p.Val329Ile Uncertain significance Single submitter
- SLC7A5 p.Val382Leu Uncertain significance Single submitter
- SLC7A5 p.Val476Phe Uncertain significance Single submitter
- SLC7A5 p.Val56Gly Uncertain significance Single submitter
-
SLC7A5 p.Ala246Val
Uncertain significance
No assertion criteria
autism spectrum disorder
-
SLC7A5 p.Pro375Leu
Uncertain significance
No assertion criteria
autism spectrum disorder
Predictors split 10
The independent predictors disagree with each other — read with care.
- SLC7A5 p.Ala193Thr Uncertain significance Single submitter
- SLC7A5 p.Arg195Gln Uncertain significance Single submitter
- SLC7A5 p.Arg23Pro Uncertain significance Single submitter
- SLC7A5 p.Asn269Ser Uncertain significance Single submitter
- SLC7A5 p.Cys176Phe Uncertain significance Single submitter
- SLC7A5 p.Ile464Val Uncertain significance Single submitter
- SLC7A5 p.Leu435Val Uncertain significance Single submitter
- SLC7A5 p.Lys422Asn Uncertain significance Single submitter
- SLC7A5 p.Lys77Asn Uncertain significance Single submitter
- SLC7A5 p.Pro162Leu Uncertain significance Single submitter
All SLC7A5 variants
Benign 9
- c.1043+6C>T Multiple submitters
- p.Ala199= Multiple submitters
- p.Asn230Lys Multiple submitters
- p.Asp223Val Multiple submitters
- p.Ala129= Single submitter
- p.Phe336= Single submitter
- p.Gly115= No assertion criteria SLC7A5-related disorder
- p.Pro6Leu No assertion criteria SLC7A5-related disorder
- p.Val449= No assertion criteria SLC7A5-related disorder
Likely benign 11
- p.Ala203Thr Single submitter
- p.Val217Ile Single submitter
- p.Val44= Single submitter
- c.1141-4C>A No assertion criteria SLC7A5-related disorder
- c.1290+6C>A No assertion criteria SLC7A5-related disorder
- c.-1C>T No assertion criteria SLC7A5-related disorder
- c.*9C>G No assertion criteria SLC7A5-related disorder
- p.Ala153= No assertion criteria SLC7A5-related disorder
- p.Ala184= No assertion criteria SLC7A5-related disorder
- p.Gly41Asp No assertion criteria SLC7A5-related disorder
- p.Phe330= No assertion criteria SLC7A5-related disorder
Uncertain significance 68
- p.Ala16Thr Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala32Ser Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala434Thr Single submitter ⚠
- p.Ala448Thr Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg23Pro Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg8Leu Single submitter ⚠
- p.Asn186Ser Single submitter ⚠
- p.Asn269Ser Single submitter ⚠
- p.Asn480Lys Single submitter ⚠
- p.Asp33His Single submitter ⚠
- p.Cys176Phe Single submitter ⚠
- p.Gln369His Single submitter ⚠
- p.Gln487Arg Single submitter ⚠
- p.Glu105Gly Single submitter ⚠
- p.Gly115Ser Single submitter ⚠
- p.Gly414Ser Single submitter ⚠
- p.Gly41Val Single submitter ⚠
- p.Gly475Arg Single submitter ⚠
- p.Gly488Val Single submitter ⚠
- p.Ile440Leu Single submitter ⚠
- p.Ile440Val Single submitter ⚠
- p.Ile464Val Single submitter ⚠
- p.Ile489Val Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Leu131Phe Single submitter ⚠
- p.Leu370Val Single submitter ⚠
- p.Leu386Pro Single submitter ⚠
- p.Leu435Val Single submitter ⚠
- p.Lys112Thr Single submitter ⚠
- p.Lys204Asn Single submitter ⚠
- p.Lys30Asn Single submitter ⚠
- p.Lys422Asn Single submitter ⚠
- p.Lys77Asn Single submitter ⚠
- p.Met120Val Single submitter ⚠
- p.Met26Leu Single submitter ⚠
- p.Met500Lys Single submitter ⚠
- p.Phe350Leu Single submitter ⚠
- p.Phe439Val Single submitter ⚠
- p.Pro162Leu Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro504Thr Single submitter
- p.Pro6Arg Single submitter ⚠
- p.Ser307Leu Single submitter ⚠
- p.Ser324Pro Single submitter ⚠
- p.Ser35Leu Single submitter ⚠
- p.Ser35Trp Single submitter ⚠
- p.Thr108Ser Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr51Ala Single submitter ⚠
- p.Tyr289His Single submitter ⚠
- p.Val311Met Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val322Ile Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val382Leu Single submitter ⚠
- p.Val476Phe Single submitter ⚠
- p.Val56Gly Single submitter ⚠
- p.Ala246Val No assertion criteria autism spectrum disorder ⚠
- p.Pro375Leu No assertion criteria autism spectrum disorder ⚠