GSPT2 — 51 ClinVar variants
All ClinVar germline GSPT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Pathogenic · 2 Benign · 9 Likely benign · 39 Uncertain significance
Full GSPT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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GSPT2 p.Val341Ile
Pathogenic
No assertion criteria
Delayed speech and language development
Predictors lean, ClinVar uncertain 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSPT2 p.His517Arg Uncertain significance Multiple submitters
- GSPT2 p.Ala35Thr Uncertain significance Single submitter
- GSPT2 p.Asn53Ile Uncertain significance Single submitter
- GSPT2 p.Asn53Lys Uncertain significance Single submitter
- GSPT2 p.Asn53Ser Uncertain significance Single submitter
- GSPT2 p.Asp16Asn Uncertain significance Single submitter
- GSPT2 p.Asp428Gly Uncertain significance Single submitter
- GSPT2 p.Asp437Tyr Uncertain significance Single submitter
- GSPT2 p.Asp90Glu Uncertain significance Single submitter
- GSPT2 p.Cys93Gly Uncertain significance Single submitter
- GSPT2 p.Glu131Gln Uncertain significance Single submitter
- GSPT2 p.Glu131Gly Uncertain significance Single submitter
- GSPT2 p.Glu160Lys Uncertain significance Single submitter
- GSPT2 p.Gly101Arg Uncertain significance Single submitter
- GSPT2 p.Gly300Ala Uncertain significance Single submitter
- GSPT2 p.Gly75Asp Uncertain significance Single submitter
- GSPT2 p.Gly87Asp Uncertain significance Single submitter
- GSPT2 p.Gly97Val Uncertain significance Single submitter
- GSPT2 p.Ile223Val Uncertain significance Single submitter
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GSPT2 p.Met130Val
Uncertain significance
Single submitter
GSPT2-related disorder
- GSPT2 p.Phe404Val Uncertain significance Single submitter
- GSPT2 p.Pro43Leu Uncertain significance Single submitter
- GSPT2 p.Pro487Ser Uncertain significance Single submitter
- GSPT2 p.Pro76Leu Uncertain significance Single submitter
- GSPT2 p.Ser153Gly Uncertain significance Single submitter
- GSPT2 p.Ser49Arg Uncertain significance Single submitter
- GSPT2 p.Ser86Cys Uncertain significance Single submitter
- GSPT2 p.Thr591Ala Uncertain significance Single submitter
- GSPT2 p.Thr77Ser Uncertain significance Single submitter
- GSPT2 p.Tyr363Phe Uncertain significance Single submitter
- GSPT2 p.Val194Leu Uncertain significance Single submitter
- GSPT2 p.Val206Ile Uncertain significance Single submitter
- GSPT2 p.Val524Ala Uncertain significance Single submitter
- GSPT2 p.Val581Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All GSPT2 variants
Pathogenic 1
- p.Val341Ile No assertion criteria Delayed speech and language development ⚠
Benign 2
- p.Glu141= Multiple submitters
- p.Pro23Leu Multiple submitters
Likely benign 9
Uncertain significance 39
- p.His517Arg Multiple submitters ⚠
- p.Ala108fs Single submitter
- p.Ala314Ser Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Asn53Ile Single submitter ⚠
- p.Asn53Lys Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp428Gly Single submitter ⚠
- p.Asp437Tyr Single submitter ⚠
- p.Asp90Glu Single submitter ⚠
- p.Cys93Gly Single submitter ⚠
- p.Glu131Gln Single submitter ⚠
- p.Glu131Gly Single submitter ⚠
- p.Glu160Lys Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly300Ala Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.Gly87Asp Single submitter ⚠
- p.Gly97Val Single submitter ⚠
- p.His386= Single submitter
- p.Ile223Val Single submitter ⚠
- p.Met130Val Single submitter GSPT2-related disorder ⚠
- p.Phe404Val Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro487Ser Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Ser153Gly Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser86Cys Single submitter ⚠
- p.Thr409Ala Single submitter ⚠
- p.Thr591Ala Single submitter ⚠
- p.Thr77Ser Single submitter ⚠
- p.Tyr363Phe Single submitter ⚠
- p.Val194Leu Single submitter ⚠
- p.Val206Ile Single submitter ⚠
- p.Val524Ala Single submitter ⚠
- p.Val581Ile Single submitter ⚠
- p.Val63Ala Single submitter ⚠