SGMS1 — 24 ClinVar variants
All ClinVar germline SGMS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Pathogenic · 1 Conflicting · 21 Uncertain significance
Full SGMS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SGMS1 p.Arg257Gln Uncertain significance Single submitter
- SGMS1 p.Arg302Gln Uncertain significance Single submitter
- SGMS1 p.Arg51Gln Uncertain significance Single submitter
- SGMS1 p.Arg51Leu Uncertain significance Single submitter
- SGMS1 p.Asn275Ser Uncertain significance Single submitter
- SGMS1 p.Asp251Asn Uncertain significance Single submitter
- SGMS1 p.Gln127Pro Uncertain significance Single submitter
- SGMS1 p.Gln181Arg Uncertain significance Single submitter
- SGMS1 p.Gly33Ser Uncertain significance Single submitter
- SGMS1 p.Ile339Met Uncertain significance Single submitter
- SGMS1 p.Met21Val Uncertain significance Single submitter
- SGMS1 p.Met276Leu Uncertain significance Single submitter
- SGMS1 p.Met63Leu Uncertain significance Single submitter
- SGMS1 p.Pro104Arg Uncertain significance Single submitter
- SGMS1 p.Pro392Ser Uncertain significance Single submitter
- SGMS1 p.Pro48Leu Uncertain significance Single submitter
- SGMS1 p.Val147Phe Uncertain significance Single submitter
- SGMS1 p.Val316Ile Uncertain significance Single submitter
- SGMS1 p.Val317Phe Uncertain significance Single submitter
- SGMS1 p.Val89Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All SGMS1 variants
Pathogenic 2
- p.Arg226Gln Single submitter
- p.Thr286Met Single submitter
Conflicting classifications of pathogenicity 1
- p.Gly284Ser Single submitter ⚠
Uncertain significance 21
- p.Arg257Gln Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg51Gln Single submitter ⚠
- p.Arg51Leu Single submitter ⚠
- p.Asn275Ser Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Gln127Pro Single submitter ⚠
- p.Gln181Arg Single submitter ⚠
- p.Gly33Ser Single submitter ⚠
- p.Ile339Met Single submitter ⚠
- p.Met21Val Single submitter ⚠
- p.Met276Leu Single submitter ⚠
- p.Met63Leu Single submitter ⚠
- p.Pro104Arg Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Ser154Leu Single submitter ⚠
- p.Val147Phe Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val317Phe Single submitter ⚠
- p.Val89Leu Single submitter ⚠