SLC1A5 — 67 ClinVar variants
All ClinVar germline SLC1A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
5 Benign · 1 Benign/Likely benign · 6 Likely benign · 55 Uncertain significance
Full SLC1A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC1A5 p.Ala152Thr Uncertain significance Single submitter
- SLC1A5 p.Ala161Ser Uncertain significance Single submitter
- SLC1A5 p.Ala164Val Uncertain significance Single submitter
-
SLC1A5 p.Ala277Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia
- SLC1A5 p.Ala391Thr Uncertain significance Single submitter
- SLC1A5 p.Ala534Val Uncertain significance Single submitter
- SLC1A5 p.Arg246Gln Uncertain significance Single submitter
- SLC1A5 p.Arg257His Uncertain significance Single submitter
- SLC1A5 p.Arg301Cys Uncertain significance Single submitter
- SLC1A5 p.Arg301His Uncertain significance Single submitter
- SLC1A5 p.Arg465Gln Uncertain significance Single submitter
- SLC1A5 p.Arg488His Uncertain significance Single submitter
- SLC1A5 p.Arg525Trp Uncertain significance Single submitter
- SLC1A5 p.Asn263Ser Uncertain significance Single submitter
- SLC1A5 p.Asn386Ser Uncertain significance Single submitter
- SLC1A5 p.Asp182Gly Uncertain significance Single submitter
- SLC1A5 p.Glu179Lys Uncertain significance Single submitter
- SLC1A5 p.Glu366Asp Uncertain significance Single submitter
- SLC1A5 p.Gly11Arg Uncertain significance Single submitter
- SLC1A5 p.Gly233Ser Uncertain significance Single submitter
- SLC1A5 p.Gly389Arg Uncertain significance Single submitter
- SLC1A5 p.Gly389Ser Uncertain significance Single submitter
- SLC1A5 p.Gly40Cys Uncertain significance Single submitter
- SLC1A5 p.Gly427Arg Uncertain significance Single submitter
- SLC1A5 p.Ile113Leu Uncertain significance Single submitter
- SLC1A5 p.Ile239Met Uncertain significance Single submitter
- SLC1A5 p.Ile378Val Uncertain significance Single submitter
- SLC1A5 p.Ile417Val Uncertain significance Single submitter
- SLC1A5 p.Leu112Phe Uncertain significance Single submitter
- SLC1A5 p.Phe411Leu Uncertain significance Single submitter
- SLC1A5 p.Pro322Ser Uncertain significance Single submitter
- SLC1A5 p.Pro509Leu Uncertain significance Single submitter
- SLC1A5 p.Ser118Thr Uncertain significance Single submitter
- SLC1A5 p.Ser177Asn Uncertain significance Single submitter
- SLC1A5 p.Ser177Ile Uncertain significance Single submitter
- SLC1A5 p.Ser491Leu Uncertain significance Single submitter
- SLC1A5 p.Ser493Ile Uncertain significance Single submitter
- SLC1A5 p.Thr416Asn Uncertain significance Single submitter
- SLC1A5 p.Val147Glu Uncertain significance Single submitter
- SLC1A5 p.Val147Met Uncertain significance Single submitter
- SLC1A5 p.Val166Met Uncertain significance Single submitter
- SLC1A5 p.Val285Leu Uncertain significance Single submitter
- SLC1A5 p.Val486Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SLC1A5 p.Arg257Cys Uncertain significance Single submitter
- SLC1A5 p.Arg330Cys Uncertain significance Single submitter
- SLC1A5 p.Arg335Cys Uncertain significance Single submitter
- SLC1A5 p.Arg376His Uncertain significance Single submitter
- SLC1A5 p.Met541Thr Uncertain significance Single submitter
- SLC1A5 p.Phe299Ser Uncertain significance Single submitter
- SLC1A5 p.Ser118Arg Uncertain significance Single submitter
- SLC1A5 p.Val222Met Uncertain significance Single submitter
- SLC1A5 p.Val426Leu Uncertain significance Single submitter
-
SLC1A5 p.Glu253Val
Benign
No assertion criteria
SLC1A5-related disorder
All SLC1A5 variants
Benign 5
- c.1254-10T>C No assertion criteria SLC1A5-related disorder
- p.Ala390= No assertion criteria SLC1A5-related disorder
- p.Glu253Lys No assertion criteria SLC1A5-related disorder
- p.Glu253Val No assertion criteria SLC1A5-related disorder ⚠
- p.Thr468= No assertion criteria SLC1A5-related disorder
Benign/Likely benign 1
- p.Ile453Leu Multiple submitters
Likely benign 6
- p.Val469Ile Single submitter
- p.Val533Ala Single submitter
- p.Ala144= No assertion criteria SLC1A5-related disorder
- p.Asp120= No assertion criteria SLC1A5-related disorder
- p.Leu232= No assertion criteria SLC1A5-related disorder
- p.Pro221Arg No assertion criteria SLC1A5-related disorder
Uncertain significance 55
- p.Ala152Thr Single submitter ⚠
- p.Ala161Ser Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala244Val Single submitter
- p.Ala277Thr Single submitter hereditary spastic paraplegia ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala534Val Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg246Trp Single submitter
- p.Arg257Cys Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg301Cys Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg335Cys Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg488His Single submitter ⚠
- p.Arg525Trp Single submitter ⚠
- p.Asn263Ser Single submitter ⚠
- p.Asn386Ser Single submitter ⚠
- p.Asp182Gly Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu366Asp Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly233Ser Single submitter ⚠
- p.Gly389Arg Single submitter ⚠
- p.Gly389Ser Single submitter ⚠
- p.Gly40Cys Single submitter ⚠
- p.Gly427Arg Single submitter ⚠
- p.Ile113Leu Single submitter ⚠
- p.Ile239Met Single submitter ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile417Val Single submitter ⚠
- p.Leu112Phe Single submitter ⚠
- p.Met541Thr Single submitter ⚠
- p.Phe299Ser Single submitter ⚠
- p.Phe411Leu Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro509Leu Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Ser118Thr Single submitter ⚠
- p.Ser177Asn Single submitter ⚠
- p.Ser177Ile Single submitter ⚠
- p.Ser491Leu Single submitter ⚠
- p.Ser493Ile Single submitter ⚠
- p.Thr416Asn Single submitter ⚠
- p.Val147Glu Single submitter ⚠
- p.Val147Met Single submitter ⚠
- p.Val166Met Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val285Leu Single submitter ⚠
- p.Val396Met Single submitter
- p.Val426Leu Single submitter ⚠
- p.Val486Met Single submitter ⚠