SMG1 — 38 ClinVar variants
All ClinVar germline SMG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
4 Benign · 7 Likely benign · 27 Uncertain significance
Full SMG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SMG1 p.Ala2602Thr Uncertain significance Single submitter
- SMG1 p.Ala739Val Uncertain significance Single submitter
- SMG1 p.Arg68Trp Uncertain significance Single submitter
- SMG1 p.Asp49Asn Uncertain significance Single submitter
- SMG1 p.His3144Tyr Uncertain significance Single submitter
- SMG1 p.Ile1307Thr Uncertain significance Single submitter
- SMG1 p.Ile1569Met Uncertain significance Single submitter
- SMG1 p.Ser1749Asn Uncertain significance Single submitter
- SMG1 p.Ser753Cys Uncertain significance Single submitter
- SMG1 p.Ser854Asn Uncertain significance Single submitter
- SMG1 p.Thr1148Ser Uncertain significance Single submitter
- SMG1 p.Thr1170Ser Uncertain significance Single submitter
- SMG1 p.Thr1556Ile Uncertain significance Single submitter
- SMG1 p.Thr278Ile Uncertain significance Single submitter
- SMG1 p.Thr747Pro Uncertain significance Single submitter
- SMG1 p.Tyr1355Phe Uncertain significance Single submitter
- SMG1 p.Tyr1581Asp Uncertain significance Single submitter
- SMG1 p.Tyr2684Cys Uncertain significance Single submitter
- SMG1 p.Val3414Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All SMG1 variants
Benign 4
- p.Ala1209Ser Multiple submitters
- p.Ala400= Single submitter
- p.Pro932= Single submitter
- p.Thr701Met Single submitter
Likely benign 7
- c.5624-7A>T Single submitter
- p.Ala3325= Single submitter
- p.Asn3070= Single submitter
- p.Ile1099Val Single submitter
- p.Leu166= Single submitter
- p.Leu2832= Single submitter
- p.Leu3271= Single submitter
Uncertain significance 27
- p.Ala2602Thr Single submitter ⚠
- p.Ala739Val Single submitter ⚠
- p.Arg3543Gln Single submitter
- p.Arg68Trp Single submitter ⚠
- p.Asp49Asn Single submitter ⚠
- p.Cys1081Tyr Single submitter
- p.His3144Tyr Single submitter ⚠
- p.Ile1307Thr Single submitter ⚠
- p.Ile1569Met Single submitter ⚠
- p.Leu2492= Single submitter
- p.Lys514Glu Single submitter
- p.Ser1749Asn Single submitter ⚠
- p.Ser394fs Single submitter
- p.Ser753Cys Single submitter ⚠
- p.Ser854Asn Single submitter ⚠
- p.Ser927Thr Single submitter ⚠
- p.Thr1148Ser Single submitter ⚠
- p.Thr1170Ser Single submitter ⚠
- p.Thr1556Ile Single submitter ⚠
- p.Thr278Ile Single submitter ⚠
- p.Thr3028Ala Single submitter
- p.Thr747Pro Single submitter ⚠
- p.Tyr1355Phe Single submitter ⚠
- p.Tyr1581Asp Single submitter ⚠
- p.Tyr2438Cys Single submitter
- p.Tyr2684Cys Single submitter ⚠
- p.Val3414Ala Single submitter ⚠