SLC43A1 — 90 ClinVar variants

All ClinVar germline SLC43A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

4 Benign · 7 Likely benign · 79 Uncertain significance

Full SLC43A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 55

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 19

The independent predictors disagree with each other — read with care.

All SLC43A1 variants

Benign 4

p.Thr119Ile Multiple submitters
p.Thr181= Multiple submitters
p.Ala387Thr Single submitter
p.Leu40Met Single submitter

Likely benign 7

p.Arg291Lys Single submitter
p.Glu338Asp Single submitter
p.Ile219Val Single submitter
p.Leu187= Single submitter
p.Leu295Phe Single submitter
p.Tyr189= Single submitter
p.Val393Ala Single submitter

Uncertain significance 79

p.Ala221Gly Single submitter ⚠
p.Ala491Asp Single submitter ⚠
p.Ala500Thr Single submitter ⚠
p.Ala500Val Single submitter ⚠
p.Ala559Thr Single submitter ⚠
p.Arg100Cys Single submitter ⚠
p.Arg100His Single submitter ⚠
p.Arg104Gln Single submitter ⚠
p.Arg107Trp Single submitter ⚠
p.Arg10Trp Single submitter ⚠
p.Arg126Trp Single submitter ⚠
p.Arg164Cys Single submitter ⚠
p.Arg296Gly Single submitter ⚠
p.Arg317Trp Single submitter
p.Arg380Gln Single submitter ⚠
p.Arg409His Single submitter ⚠
p.Arg534His Single submitter ⚠
p.Arg536Gln Single submitter ⚠
p.Arg536Trp Single submitter ⚠
p.Arg64Cys Single submitter ⚠
p.Asn544Lys Single submitter ⚠
p.Asp190Glu Single submitter ⚠
p.Asp70Glu Single submitter ⚠
p.Cys148Phe Single submitter
p.Cys17Ser Single submitter ⚠
p.Cys370Tyr Single submitter ⚠
p.Cys50Tyr Single submitter ⚠
p.Gln495His Single submitter ⚠
p.Gln63His Single submitter ⚠
p.Glu227Gly Single submitter ⚠
p.Glu350Asp Single submitter ⚠
p.Gly143Ser Single submitter ⚠
p.Gly192Asp Single submitter ⚠
p.Gly400Glu Single submitter ⚠
p.Gly481Ser Single submitter ⚠
p.Ile376Val Single submitter ⚠
p.Ile486Val Single submitter ⚠
p.Ile96Phe Single submitter ⚠
p.Leu163Val Single submitter ⚠
p.Leu309Phe Single submitter ⚠
p.Leu40Gln Single submitter ⚠
p.Leu518Val Single submitter ⚠
p.Lys382Asn Single submitter ⚠
p.Lys412Asn Single submitter ⚠
p.Met159Ile Single submitter ⚠
p.Met15Lys Single submitter ⚠
p.Met171Val Single submitter
p.Met377Ile Single submitter ⚠
p.Met546Ile Single submitter ⚠
p.Phe304Cys Single submitter ⚠
p.Phe304Leu Single submitter ⚠
p.Phe519Val Single submitter ⚠
p.Pro133Leu Single submitter ⚠
p.Pro157Ala Single submitter ⚠
p.Pro302Arg Single submitter ⚠
p.Pro527Ser Single submitter ⚠
p.Pro548Leu Single submitter ⚠
p.Pro67Arg Single submitter ⚠
p.Ser111Cys Single submitter ⚠
p.Ser125Phe Single submitter ⚠
p.Ser165Phe Single submitter ⚠
p.Ser301Phe Single submitter
p.Ser55Asn Single submitter ⚠
p.Thr150Lys Single submitter ⚠
p.Thr18Met Single submitter ⚠
p.Thr334Ala Single submitter ⚠
p.Thr453Ile Single submitter ⚠
p.Thr478Met Single submitter ⚠
p.Thr4Lys Single submitter ⚠
p.Thr4Met Single submitter ⚠
p.Thr4Pro Single submitter ⚠
p.Trp13Cys Single submitter ⚠
p.Trp379Gly Single submitter
p.Tyr467Cys Single submitter ⚠
p.Tyr532Cys Single submitter ⚠
p.Val109Phe Single submitter ⚠
p.Val293Leu Single submitter ⚠
p.Val431Leu Single submitter ⚠
p.Val86Met Single submitter ⚠