SDC1 — 43 ClinVar variants
All ClinVar germline SDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
5 Benign · 5 Likely benign · 33 Uncertain significance
Full SDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SDC1 p.Ala149Val Uncertain significance Single submitter
- SDC1 p.Ala224Val Uncertain significance Single submitter
- SDC1 p.Ala88Pro Uncertain significance Single submitter
- SDC1 p.Arg117Gly Uncertain significance Single submitter
- SDC1 p.Arg230Trp Uncertain significance Single submitter
- SDC1 p.Arg277Cys Uncertain significance Single submitter
- SDC1 p.Asn219Tyr Uncertain significance Single submitter
- SDC1 p.Asn43Ser Uncertain significance Single submitter
- SDC1 p.Asp174Gly Uncertain significance Single submitter
- SDC1 p.Asp236Asn Uncertain significance Single submitter
- SDC1 p.Gln209Arg Uncertain significance Single submitter
- SDC1 p.Gln23Lys Uncertain significance Single submitter
- SDC1 p.Gln244His Uncertain significance Single submitter
- SDC1 p.Glu189Lys Uncertain significance Single submitter
- SDC1 p.Gly102Val Uncertain significance Single submitter
- SDC1 p.His152Gln Uncertain significance Single submitter
- SDC1 p.Ile257Thr Uncertain significance Single submitter
- SDC1 p.Ile74Val Uncertain significance Single submitter
- SDC1 p.Pro185Ser Uncertain significance Single submitter
- SDC1 p.Pro80Ala Uncertain significance Single submitter
- SDC1 p.Ser197Phe Uncertain significance Single submitter
- SDC1 p.Ser216Leu Uncertain significance Single submitter
- SDC1 p.Thr122Asn Uncertain significance Single submitter
- SDC1 p.Thr128Ala Uncertain significance Single submitter
- SDC1 p.Thr27Ala Uncertain significance Single submitter
- SDC1 p.Val225Met Uncertain significance Single submitter
- SDC1 p.Val262Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All SDC1 variants
Benign 5
- p.Ala104= Multiple submitters
- p.Ala116Thr Multiple submitters
- p.Gly82Ser Multiple submitters
- p.Thr68Met Multiple submitters
- p.Thr76Met Multiple submitters
Likely benign 5
- p.Ala224= Single submitter
- p.Arg229His Single submitter
- p.His179Arg Single submitter
- p.Pro178= Single submitter
- p.Ser63Phe No assertion criteria long QT syndrome
Uncertain significance 33
- p.Ala149Val Single submitter ⚠
- p.Ala192= Single submitter
- p.Ala224Val Single submitter ⚠
- p.Ala310Ser Single submitter ⚠
- p.Ala88Pro Single submitter ⚠
- p.Arg117Gly Single submitter ⚠
- p.Arg229Cys Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Asn219Tyr Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asp174Gly Single submitter ⚠
- p.Asp236Asn Single submitter ⚠
- p.Gln209Arg Single submitter ⚠
- p.Gln23Lys Single submitter ⚠
- p.Gln244His Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Gly102Val Single submitter ⚠
- p.His152Gln Single submitter ⚠
- p.Ile257Thr Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Leu270Met Single submitter
- p.Lys304Thr Single submitter ⚠
- p.Pro185Ser Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Ser197Phe Single submitter ⚠
- p.Ser216Leu Single submitter ⚠
- p.Thr122Asn Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr139Met Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Val225Met Single submitter ⚠
- p.Val262Met Single submitter ⚠