SLC27A1 — 98 ClinVar variants

All ClinVar germline SLC27A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

5 Benign · 3 Likely benign · 90 Uncertain significance

Full SLC27A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 70

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

Predictors split 18

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

All SLC27A1 variants

Benign 5

p.Ala538= Multiple submitters
p.Ala645Val Multiple submitters
c.794+8G>A Single submitter
p.Ala151= Single submitter
p.Gln234= Single submitter

Likely benign 3

p.Gln280Arg Single submitter
p.Ser561Gly Single submitter
p.Val556Ile Single submitter

Uncertain significance 90

p.Ala107Gly Single submitter ⚠
p.Ala188Val Single submitter ⚠
p.Ala352Val Single submitter ⚠
p.Ala634Thr Single submitter ⚠
p.Ala643Thr Single submitter ⚠
p.Arg138Trp Single submitter ⚠
p.Arg163Trp Single submitter ⚠
p.Arg243His Single submitter ⚠
p.Arg278Cys Single submitter ⚠
p.Arg321Leu Single submitter ⚠
p.Arg411Cys Single submitter ⚠
p.Arg420Gly Single submitter ⚠
p.Arg45Ser Single submitter ⚠
p.Arg461His Single submitter ⚠
p.Arg513His Single submitter ⚠
p.Arg530His Single submitter ⚠
p.Arg581Gln Single submitter ⚠
p.Arg581Trp Single submitter ⚠
p.Arg606Gln Single submitter ⚠
p.Arg612Cys Single submitter ⚠
p.Arg612His Single submitter ⚠
p.Arg73Leu Single submitter ⚠
p.Arg92His Single submitter ⚠
p.Asp129Asn Single submitter ⚠
p.Asp221Glu Single submitter ⚠
p.Asp485Asn Single submitter
p.Cys640Tyr Single submitter ⚠
p.Glu184Asp Single submitter ⚠
p.Glu351Gln Single submitter ⚠
p.Glu351Lys Single submitter ⚠
p.Glu372Gly Single submitter ⚠
p.Glu91Ala Single submitter ⚠
p.Gly365Arg Single submitter ⚠
p.Gly379Arg Single submitter ⚠
p.Gly401Arg Single submitter ⚠
p.Gly452Val Single submitter ⚠
p.Gly509Arg Single submitter ⚠
p.Gly516Glu Single submitter ⚠
p.Gly533Ser Single submitter ⚠
p.Gly552Arg Single submitter ⚠
p.His274Arg Single submitter ⚠
p.Ile599Met Single submitter ⚠
p.Ile599Phe Single submitter ⚠
p.Ile81Val Single submitter ⚠
p.Leu200Phe Single submitter ⚠
p.Leu244Phe Single submitter ⚠
p.Leu313Phe Single submitter ⚠
p.Leu421Pro Single submitter ⚠
p.Leu438Phe Single submitter ⚠
p.Leu55Phe Single submitter ⚠
p.Leu618Phe Single submitter ⚠
p.Lys49Asn Single submitter ⚠
p.Lys624Arg Single submitter ⚠
p.Met153Ile Single submitter ⚠
p.Met240Leu Single submitter ⚠
p.Met269Leu Single submitter ⚠
p.Met399Ile Single submitter ⚠
p.Met429Val Single submitter ⚠
p.Met502Thr Single submitter ⚠
p.Phe272Leu Single submitter ⚠
p.Phe584Leu Single submitter ⚠
p.Pro127Arg Single submitter ⚠
p.Pro139Leu Single submitter ⚠
p.Pro215Ser Single submitter ⚠
p.Pro459Leu Single submitter
p.Pro545Leu Single submitter ⚠
p.Pro565Ser Single submitter ⚠
p.Pro611Ser Single submitter ⚠
p.Ser205Pro Single submitter ⚠
p.Ser294Leu Single submitter ⚠
p.Ser529Gly Single submitter ⚠
p.Thr332Ala Single submitter ⚠
p.Thr472Ser Single submitter ⚠
p.Thr50Ala Single submitter ⚠
p.Thr511Ile Single submitter ⚠
p.Thr602Met Single submitter ⚠
p.Thr637Ala Single submitter ⚠
p.Trp323Arg Single submitter ⚠
p.Tyr488His Single submitter ⚠
p.Tyr579Ser Single submitter ⚠
p.Val142Leu Single submitter ⚠
p.Val261Ile Single submitter ⚠
p.Val334Ile Single submitter ⚠
p.Val36Met Single submitter ⚠
p.Val493Met Single submitter ⚠
p.Val519Ile Single submitter ⚠
p.Val519Phe Single submitter ⚠
p.Val527Met Single submitter ⚠
p.Val539Leu Single submitter ⚠
p.Val60Ala Single submitter ⚠