GSPT1 — 74 ClinVar variants
All ClinVar germline GSPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Likely benign · 73 Uncertain significance
Full GSPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSPT1 p.Ala168Val Uncertain significance Single submitter
- GSPT1 p.Ala495Ser Uncertain significance Single submitter
- GSPT1 p.Arg282His Uncertain significance Single submitter
- GSPT1 p.Arg594Leu Uncertain significance Single submitter
- GSPT1 p.Asn369Lys Uncertain significance Single submitter
- GSPT1 p.Asn549Ser Uncertain significance Single submitter
- GSPT1 p.Asp532Gly Uncertain significance Single submitter
- GSPT1 p.Asp637Asn Uncertain significance Single submitter
- GSPT1 p.Cys602Ser Uncertain significance Single submitter
- GSPT1 p.Glu143Gly Uncertain significance Single submitter
- GSPT1 p.Glu164Lys Uncertain significance Single submitter
- GSPT1 p.Glu182Asp Uncertain significance Single submitter
- GSPT1 p.Glu182Gly Uncertain significance Single submitter
- GSPT1 p.Glu211Gln Uncertain significance Single submitter
- GSPT1 p.Gly171Arg Uncertain significance Single submitter
- GSPT1 p.Gly172Asp Uncertain significance Single submitter
- GSPT1 p.Gly172Cys Uncertain significance Single submitter
- GSPT1 p.Gly173Arg Uncertain significance Single submitter
- GSPT1 p.Gly206Asp Uncertain significance Single submitter
- GSPT1 p.Ile195Val Uncertain significance Single submitter
- GSPT1 p.Ile535Thr Uncertain significance Single submitter
- GSPT1 p.Leu175Met Uncertain significance Single submitter
- GSPT1 p.Leu353Ile Uncertain significance Single submitter
- GSPT1 p.Leu513Val Uncertain significance Single submitter
- GSPT1 p.Pro155Thr Uncertain significance Single submitter
- GSPT1 p.Pro180Leu Uncertain significance Single submitter
- GSPT1 p.Pro181Ser Uncertain significance Single submitter
- GSPT1 p.Pro204Leu Uncertain significance Single submitter
- GSPT1 p.Pro634Ser Uncertain significance Single submitter
- GSPT1 p.Val201Ala Uncertain significance Single submitter
- GSPT1 p.Val455Ile Uncertain significance Single submitter
- GSPT1 p.Val494Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- GSPT1 p.Arg581Gln Uncertain significance Single submitter
- GSPT1 p.Asn306His Uncertain significance Single submitter
- GSPT1 p.Asn389Ser Uncertain significance Single submitter
- GSPT1 p.Asp608Ala Uncertain significance Single submitter
- GSPT1 p.Gln589Glu Uncertain significance Single submitter
- GSPT1 p.Ile592Leu Uncertain significance Single submitter
- GSPT1 p.Met238Val Uncertain significance Single submitter
- GSPT1 p.Thr243Met Uncertain significance Single submitter
All GSPT1 variants
Likely benign 1
- p.Ser17Gly Single submitter
Uncertain significance 73
- c.395-2A>G Single submitter
- p.Ala104Gly Single submitter
- p.Ala104Ser Single submitter
- p.Ala168Val Single submitter ⚠
- p.Ala495Ser Single submitter ⚠
- p.Ala51Val Single submitter
- p.Ala95Val Single submitter
- p.Arg282His Single submitter ⚠
- p.Arg581Gln Single submitter ⚠
- p.Arg594Leu Single submitter ⚠
- p.Asn105Lys Single submitter
- p.Asn134Asp Single submitter
- p.Asn306His Single submitter ⚠
- p.Asn369Lys Single submitter ⚠
- p.Asn389Ser Single submitter ⚠
- p.Asn549Ser Single submitter ⚠
- p.Asn70Ser Single submitter
- p.Asp25Gly Single submitter
- p.Asp29His Single submitter
- p.Asp35Glu Single submitter
- p.Asp532Gly Single submitter ⚠
- p.Asp608Ala Single submitter ⚠
- p.Asp637Asn Single submitter ⚠
- p.Cys602Ser Single submitter ⚠
- p.Gln124Glu Single submitter
- p.Gln124Pro Single submitter
- p.Gln589Glu Single submitter ⚠
- p.Gln68Arg Single submitter
- p.Glu143Gly Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu182Asp Single submitter ⚠
- p.Glu182Gly Single submitter ⚠
- p.Glu211Gln Single submitter ⚠
- p.Glu59Ala Single submitter
- p.Gly114Arg Single submitter
- p.Gly11Ser Single submitter
- p.Gly13Ser Single submitter
- p.Gly14Ser Single submitter
- p.Gly15Ser Single submitter
- p.Gly171Arg Single submitter ⚠
- p.Gly172Asp Single submitter ⚠
- p.Gly172Cys Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly206Asp Single submitter ⚠
- p.His107Arg Single submitter
- p.Ile195Val Single submitter ⚠
- p.Ile535Thr Single submitter ⚠
- p.Ile592Leu Single submitter ⚠
- p.Leu175Met Single submitter ⚠
- p.Leu353Ile Single submitter ⚠
- p.Leu402Val Single submitter
- p.Leu513Val Single submitter ⚠
- p.Met238Val Single submitter ⚠
- p.Met36Val Single submitter
- p.Pro119Arg Single submitter
- p.Pro155Thr Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro28Leu Single submitter
- p.Pro41Gln Single submitter
- p.Pro634Ser Single submitter ⚠
- p.Pro96Leu Single submitter
- p.Ser111Arg Single submitter
- p.Ser138Asn Single submitter
- p.Ser18Gly Single submitter
- p.Ser19Gly Single submitter
- p.Ser19Thr Single submitter
- p.Ser21Gly Single submitter
- p.Thr243Met Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val455Ile Single submitter ⚠
- p.Val494Ile Single submitter ⚠