SLC28A1 — 123 ClinVar variants
All ClinVar germline SLC28A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
22 Benign · 13 Likely benign · 88 Uncertain significance
Full SLC28A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC28A1 p.Ala111Thr Uncertain significance Single submitter
- SLC28A1 p.Ala201Thr Uncertain significance Single submitter
- SLC28A1 p.Ala434Val Uncertain significance Single submitter
- SLC28A1 p.Ala54Val Uncertain significance Single submitter
- SLC28A1 p.Ala55Thr Uncertain significance Single submitter
- SLC28A1 p.Ala55Val Uncertain significance Single submitter
- SLC28A1 p.Ala584Gly Uncertain significance Single submitter
- SLC28A1 p.Arg126His Uncertain significance Single submitter
- SLC28A1 p.Arg138Ser Uncertain significance Single submitter
- SLC28A1 p.Arg175Gln Uncertain significance Single submitter
- SLC28A1 p.Arg239Trp Uncertain significance Single submitter
- SLC28A1 p.Arg594Lys Uncertain significance Single submitter
- SLC28A1 p.Arg83Gln Uncertain significance Single submitter
- SLC28A1 p.Asn64Asp Uncertain significance Single submitter
- SLC28A1 p.Asp171Gly Uncertain significance Single submitter
- SLC28A1 p.Asp440His Uncertain significance Single submitter
- SLC28A1 p.Asp451Ala Uncertain significance Single submitter
- SLC28A1 p.Asp599His Uncertain significance Single submitter
- SLC28A1 p.Asp636His Uncertain significance Single submitter
- SLC28A1 p.Cys195Tyr Uncertain significance Single submitter
- SLC28A1 p.Cys275Gly Uncertain significance Single submitter
- SLC28A1 p.Gln287Arg Uncertain significance Single submitter
- SLC28A1 p.Gln456Glu Uncertain significance Single submitter
- SLC28A1 p.Glu236Lys Uncertain significance Single submitter
- SLC28A1 p.Glu307Lys Uncertain significance Single submitter
- SLC28A1 p.Glu497Lys Uncertain significance Single submitter
- SLC28A1 p.Glu53Gly Uncertain significance Single submitter
- SLC28A1 p.Gly155Val Uncertain significance Single submitter
- SLC28A1 p.Gly355Asp Uncertain significance Single submitter
- SLC28A1 p.His198Tyr Uncertain significance Single submitter
- SLC28A1 p.Ile229Thr Uncertain significance Single submitter
- SLC28A1 p.Ile463Met Uncertain significance Single submitter
- SLC28A1 p.Leu131Phe Uncertain significance Single submitter
- SLC28A1 p.Leu14Val Uncertain significance Single submitter
- SLC28A1 p.Leu150Ile Uncertain significance Single submitter
- SLC28A1 p.Leu436Val Uncertain significance Single submitter
- SLC28A1 p.Leu590Phe Uncertain significance Single submitter
- SLC28A1 p.Lys129Thr Uncertain significance Single submitter
- SLC28A1 p.Lys423Asn Uncertain significance Single submitter
- SLC28A1 p.Met24Ile Uncertain significance Single submitter
- SLC28A1 p.Met24Leu Uncertain significance Single submitter
- SLC28A1 p.Met24Lys Uncertain significance Single submitter
- SLC28A1 p.Phe152Ile Uncertain significance Single submitter
- SLC28A1 p.Phe253Ser Uncertain significance Single submitter
- SLC28A1 p.Phe498Cys Uncertain significance Single submitter
- SLC28A1 p.Pro146Leu Uncertain significance Single submitter
- SLC28A1 p.Pro387Leu Uncertain significance Single submitter
- SLC28A1 p.Pro56Arg Uncertain significance Single submitter
- SLC28A1 p.Pro56Leu Uncertain significance Single submitter
- SLC28A1 p.Ser31Ile Uncertain significance Single submitter
- SLC28A1 p.Ser49Arg Uncertain significance Single submitter
- SLC28A1 p.Ser546Tyr Uncertain significance Single submitter
- SLC28A1 p.Ser631Asn Uncertain significance Single submitter
- SLC28A1 p.Thr403Ser Uncertain significance Single submitter
- SLC28A1 p.Thr92Ile Uncertain significance Single submitter
- SLC28A1 p.Trp204Cys Uncertain significance Single submitter
- SLC28A1 p.Tyr404Cys Uncertain significance Single submitter
- SLC28A1 p.Val311Ala Uncertain significance Single submitter
- SLC28A1 p.Val385Ala Uncertain significance Single submitter
- SLC28A1 p.Val422Met Uncertain significance Single submitter
-
SLC28A1 p.Val338Ala
Uncertain significance
No assertion criteria
High myopia
Predictors split 18
The independent predictors disagree with each other — read with care.
- SLC28A1 p.Ala101Val Uncertain significance Single submitter
- SLC28A1 p.Arg126Cys Uncertain significance Single submitter
- SLC28A1 p.Arg571Trp Uncertain significance Single submitter
- SLC28A1 p.Arg620Cys Uncertain significance Single submitter
- SLC28A1 p.Arg640Trp Uncertain significance Single submitter
- SLC28A1 p.Asn583Lys Uncertain significance Single submitter
- SLC28A1 p.Cys638Gly Uncertain significance Single submitter
- SLC28A1 p.Gln319Pro Uncertain significance Single submitter
- SLC28A1 p.Leu538Val Uncertain significance Single submitter
- SLC28A1 p.Phe106Leu Uncertain significance Single submitter
- SLC28A1 p.Phe473Leu Uncertain significance Single submitter
- SLC28A1 p.Ser359Cys Uncertain significance Single submitter
- SLC28A1 p.Ser465Cys Uncertain significance Single submitter
- SLC28A1 p.Ser612Ile Uncertain significance Single submitter
- SLC28A1 p.Thr245Met Uncertain significance Single submitter
- SLC28A1 p.Thr304Ile Uncertain significance Single submitter
- SLC28A1 p.Thr534Pro Uncertain significance Single submitter
- SLC28A1 p.Thr645Met Uncertain significance Single submitter
All SLC28A1 variants
Benign 22
- p.Asn3= Multiple submitters
- p.Gly210= Multiple submitters
- p.Ser546Pro Single submitter uridine-cytidineuria
- c.1582-4G>C No assertion criteria SLC28A1-related disorder
- c.1874+7dup No assertion criteria SLC28A1-related disorder
- c.1875-8C>G No assertion criteria SLC28A1-related disorder
- c.796-5G>A No assertion criteria SLC28A1-related disorder
- c.958-9T>C No assertion criteria SLC28A1-related disorder
- c.*8A>G No assertion criteria SLC28A1-related disorder
- p.Ala190Ser No assertion criteria SLC28A1-related disorder
- p.Arg469= No assertion criteria SLC28A1-related disorder
- p.Arg529= No assertion criteria SLC28A1-related disorder
- p.Asp521Asn No assertion criteria SLC28A1-related disorder
- p.Gln237Lys No assertion criteria SLC28A1-related disorder
- p.Gln456= No assertion criteria SLC28A1-related disorder
- p.His339= No assertion criteria SLC28A1-related disorder
- p.Leu140_Lys141insVal No assertion criteria SLC28A1-related disorder
- p.Leu42= No assertion criteria SLC28A1-related disorder
- p.Lys383= No assertion criteria SLC28A1-related disorder
- p.Ser43Asn No assertion criteria SLC28A1-related disorder
- p.Ser634= No assertion criteria SLC28A1-related disorder
- p.Val189Ile No assertion criteria SLC28A1-related disorder
Likely benign 13
- p.Arg147His Multiple submitters
- c.1383+4C>T Single submitter
- c.97-10C>T Single submitter
- c.*43-18C>T Single submitter
- p.Ala45Thr Single submitter
- p.Gly351= Single submitter
- p.Leu94Phe Single submitter
- p.Pro44= Single submitter
- p.Thr606Met Single submitter
- p.Val400= Single submitter
- c.461+297C>G No assertion criteria SLC28A1-related disorder
- p.Ser366= No assertion criteria SLC28A1-related disorder
- p.Val279Ile No assertion criteria SLC28A1-related disorder
Uncertain significance 88
- p.Ala101Val Single submitter ⚠
- p.Ala111Thr Single submitter ⚠
- p.Ala201Thr Single submitter ⚠
- p.Ala347Thr Single submitter
- p.Ala434Val Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Ala584Gly Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg138Ser Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg511His Single submitter
- p.Arg571Trp Single submitter ⚠
- p.Arg594fs Single submitter
- p.Arg594Lys Single submitter ⚠
- p.Arg620Cys Single submitter ⚠
- p.Arg640Trp Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asn583Lys Single submitter ⚠
- p.Asn64Asp Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp440His Single submitter ⚠
- p.Asp451Ala Single submitter ⚠
- p.Asp599His Single submitter ⚠
- p.Asp636His Single submitter ⚠
- p.Cys195Tyr Single submitter ⚠
- p.Cys275Gly Single submitter ⚠
- p.Cys638Gly Single submitter ⚠
- p.Gln287Arg Single submitter ⚠
- p.Gln319Pro Single submitter ⚠
- p.Gln456Glu Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu307Lys Single submitter ⚠
- p.Glu497Lys Single submitter ⚠
- p.Glu53Gly Single submitter ⚠
- p.Gly155Val Single submitter ⚠
- p.Gly284Asp Single submitter
- p.Gly355Asp Single submitter ⚠
- p.His198Tyr Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile463Met Single submitter ⚠
- p.Leu131Phe Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu150Ile Single submitter ⚠
- p.Leu379Phe Single submitter
- p.Leu436Val Single submitter ⚠
- p.Leu439Gln Single submitter
- p.Leu458fs Single submitter uridine-cytidineuria
- p.Leu538Val Single submitter ⚠
- p.Leu590Phe Single submitter ⚠
- p.Lys129Thr Single submitter ⚠
- p.Lys423Asn Single submitter ⚠
- p.Met24Ile Single submitter ⚠
- p.Met24Leu Single submitter ⚠
- p.Met24Lys Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
- p.Phe152Ile Single submitter ⚠
- p.Phe253Ser Single submitter ⚠
- p.Phe473Leu Single submitter ⚠
- p.Phe498Cys Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Pro56Arg Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser31Ile Single submitter ⚠
- p.Ser359Cys Single submitter ⚠
- p.Ser465Cys Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser546Tyr Single submitter ⚠
- p.Ser612Ile Single submitter ⚠
- p.Ser631Asn Single submitter ⚠
- p.Thr245Met Single submitter ⚠
- p.Thr304Ile Single submitter ⚠
- p.Thr403Ser Single submitter ⚠
- p.Thr534Pro Single submitter ⚠
- p.Thr645Met Single submitter ⚠
- p.Thr92Ile Single submitter ⚠
- p.Trp204Cys Single submitter ⚠
- p.Tyr404Cys Single submitter ⚠
- p.Val207Met Single submitter
- p.Val252Met Single submitter
- p.Val311Ala Single submitter ⚠
- p.Val385Ala Single submitter ⚠
- p.Val422Met Single submitter ⚠
- p.Val338Ala No assertion criteria High myopia ⚠