DSCC1 — 43 ClinVar variants
All ClinVar germline DSCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 42 Uncertain significance
Full DSCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DSCC1 p.Ala271Val Uncertain significance Single submitter
- DSCC1 p.Ala280Val Uncertain significance Single submitter
- DSCC1 p.Ala311Val Uncertain significance Single submitter
- DSCC1 p.Arg318Thr Uncertain significance Single submitter
- DSCC1 p.Arg389Lys Uncertain significance Single submitter
- DSCC1 p.Asn284Ser Uncertain significance Single submitter
- DSCC1 p.Asn90Asp Uncertain significance Single submitter
- DSCC1 p.Asp82Asn Uncertain significance Single submitter
- DSCC1 p.Gln278Arg Uncertain significance Single submitter
- DSCC1 p.Gln289Arg Uncertain significance Single submitter
- DSCC1 p.Gln335Arg Uncertain significance Single submitter
- DSCC1 p.Gln365Lys Uncertain significance Single submitter
- DSCC1 p.Glu177Lys Uncertain significance Single submitter
- DSCC1 p.Glu21Gln Uncertain significance Single submitter
- DSCC1 p.Glu258Lys Uncertain significance Single submitter
- DSCC1 p.Glu290Asp Uncertain significance Single submitter
- DSCC1 p.Gly192Glu Uncertain significance Single submitter
- DSCC1 p.Gly30Ala Uncertain significance Single submitter
- DSCC1 p.Gly32Arg Uncertain significance Single submitter
- DSCC1 p.Gly41Ser Uncertain significance Single submitter
- DSCC1 p.His27Arg Uncertain significance Single submitter
- DSCC1 p.His27Pro Uncertain significance Single submitter
- DSCC1 p.Ile322Val Uncertain significance Single submitter
- DSCC1 p.Ile367Thr Uncertain significance Single submitter
- DSCC1 p.Leu310Ser Uncertain significance Single submitter
- DSCC1 p.Lys106Glu Uncertain significance Single submitter
- DSCC1 p.Lys139Asn Uncertain significance Single submitter
- DSCC1 p.Met180Val Uncertain significance Single submitter
- DSCC1 p.Met91Val Uncertain significance Single submitter
- DSCC1 p.Phe43Val Uncertain significance Single submitter
- DSCC1 p.Pro331Ser Uncertain significance Single submitter
- DSCC1 p.Ser122Cys Uncertain significance Single submitter
- DSCC1 p.Ser378Leu Uncertain significance Single submitter
- DSCC1 p.Ser76Thr Uncertain significance Single submitter
- DSCC1 p.Thr80Ser Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- DSCC1 p.Arg65His Uncertain significance Single submitter
- DSCC1 p.Glu70Gln Uncertain significance Single submitter
- DSCC1 p.Leu341Val Uncertain significance Single submitter
- DSCC1 p.Thr165Ala Uncertain significance Single submitter
- DSCC1 p.Thr4Ile Uncertain significance Single submitter
- DSCC1 p.Trp348Arg Uncertain significance Single submitter
All DSCC1 variants
Likely benign 1
- p.Gln358= Single submitter
Uncertain significance 42
- p.Ala271Val Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala311Val Single submitter ⚠
- p.Ala72Pro Single submitter
- p.Arg318Thr Single submitter ⚠
- p.Arg389Lys Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Asn284Ser Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asp82Asn Single submitter ⚠
- p.Gln278Arg Single submitter ⚠
- p.Gln289Arg Single submitter ⚠
- p.Gln335Arg Single submitter ⚠
- p.Gln365Lys Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu21Gln Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu290Asp Single submitter ⚠
- p.Glu70Gln Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly30Ala Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly41Ser Single submitter ⚠
- p.His27Arg Single submitter ⚠
- p.His27Pro Single submitter ⚠
- p.Ile322Val Single submitter ⚠
- p.Ile367Thr Single submitter ⚠
- p.Leu310Ser Single submitter ⚠
- p.Leu341Val Single submitter ⚠
- p.Lys106Glu Single submitter ⚠
- p.Lys139Asn Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met91Val Single submitter ⚠
- p.Phe43Val Single submitter ⚠
- p.Pro331Ser Single submitter ⚠
- p.Ser122Cys Single submitter ⚠
- p.Ser378Leu Single submitter ⚠
- p.Ser76Thr Single submitter ⚠
- p.Thr165Ala Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Thr80Ser Single submitter ⚠
- p.Trp348Arg Single submitter ⚠