SAMSN1 — 60 ClinVar variants
All ClinVar germline SAMSN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Benign · 5 Likely benign · 54 Uncertain significance
Full SAMSN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SAMSN1 p.Ala228Val Uncertain significance Single submitter
- SAMSN1 p.Arg149Gln Uncertain significance Single submitter
- SAMSN1 p.Arg153Gln Uncertain significance Single submitter
- SAMSN1 p.Arg153Pro Uncertain significance Single submitter
- SAMSN1 p.Arg29His Uncertain significance Single submitter
- SAMSN1 p.Arg31Gln Uncertain significance Single submitter
- SAMSN1 p.Arg31Trp Uncertain significance Single submitter
- SAMSN1 p.Asn32His Uncertain significance Single submitter
- SAMSN1 p.Asn358Asp Uncertain significance Single submitter
- SAMSN1 p.Asp127Gly Uncertain significance Single submitter
- SAMSN1 p.Asp275Tyr Uncertain significance Single submitter
- SAMSN1 p.Asp373Val Uncertain significance Single submitter
- SAMSN1 p.Cys334Tyr Uncertain significance Single submitter
- SAMSN1 p.Gln56Arg Uncertain significance Single submitter
- SAMSN1 p.Glu225Asp Uncertain significance Single submitter
- SAMSN1 p.Glu278Asp Uncertain significance Single submitter
- SAMSN1 p.Gly162Arg Uncertain significance Single submitter
- SAMSN1 p.Gly350Ser Uncertain significance Single submitter
- SAMSN1 p.Gly63Arg Uncertain significance Single submitter
- SAMSN1 p.Ile111Thr Uncertain significance Single submitter
- SAMSN1 p.Ile217Thr Uncertain significance Single submitter
- SAMSN1 p.Ile286Val Uncertain significance Single submitter
- SAMSN1 p.Ile342Val Uncertain significance Single submitter
- SAMSN1 p.Leu120Ile Uncertain significance Single submitter
- SAMSN1 p.Leu120Val Uncertain significance Single submitter
- SAMSN1 p.Lys117Glu Uncertain significance Single submitter
- SAMSN1 p.Lys230Arg Uncertain significance Single submitter
- SAMSN1 p.Lys84Arg Uncertain significance Single submitter
- SAMSN1 p.Met70Ile Uncertain significance Single submitter
- SAMSN1 p.Pro109Thr Uncertain significance Single submitter
- SAMSN1 p.Pro159Leu Uncertain significance Single submitter
- SAMSN1 p.Pro18Ser Uncertain significance Single submitter
- SAMSN1 p.Pro315Leu Uncertain significance Single submitter
- SAMSN1 p.Ser177Thr Uncertain significance Single submitter
- SAMSN1 p.Thr115Arg Uncertain significance Single submitter
- SAMSN1 p.Thr172Met Uncertain significance Single submitter
- SAMSN1 p.Thr204Ser Uncertain significance Single submitter
- SAMSN1 p.Thr259Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SAMSN1 p.Ala298Thr Uncertain significance Single submitter
- SAMSN1 p.Ala88Asp Uncertain significance Single submitter
- SAMSN1 p.Arg237Met Uncertain significance Single submitter
- SAMSN1 p.Arg252Trp Uncertain significance Single submitter
- SAMSN1 p.Arg336Ser Uncertain significance Single submitter
- SAMSN1 p.Cys196Trp Uncertain significance Single submitter
- SAMSN1 p.Gly339Ala Uncertain significance Single submitter
- SAMSN1 p.His280Gln Uncertain significance Single submitter
- SAMSN1 p.Lys277Glu Uncertain significance Single submitter
- SAMSN1 p.Lys79Glu Uncertain significance Single submitter
- SAMSN1 p.Thr175Met Uncertain significance Single submitter
- SAMSN1 p.Thr204Ile Uncertain significance Single submitter
All SAMSN1 variants
Benign 1
- c.561+9A>G Multiple submitters
Likely benign 5
- p.Gly65Ser Single submitter
- p.His45Tyr Single submitter
- p.Lys41Asn Single submitter
- p.Ser53Gly Single submitter
- p.Tyr179= Single submitter
Uncertain significance 54
- p.Ala228Val Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Ala88Asp Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg149Trp Single submitter
- p.Arg153Gln Single submitter ⚠
- p.Arg153Pro Single submitter ⚠
- p.Arg167Cys Single submitter
- p.Arg237Met Single submitter ⚠
- p.Arg252Trp Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg336Ser Single submitter ⚠
- p.Asn32His Single submitter ⚠
- p.Asn358Asp Single submitter ⚠
- p.Asp127Gly Single submitter ⚠
- p.Asp275Tyr Single submitter ⚠
- p.Asp28Gly Single submitter
- p.Asp373Val Single submitter ⚠
- p.Cys196Trp Single submitter ⚠
- p.Cys334Tyr Single submitter ⚠
- p.Gln56Arg Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Gly162Arg Single submitter ⚠
- p.Gly339Ala Single submitter ⚠
- p.Gly350Ser Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.His280Gln Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Ile217Thr Single submitter ⚠
- p.Ile286Val Single submitter ⚠
- p.Ile342Val Single submitter ⚠
- p.Leu120Ile Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Lys117Glu Single submitter ⚠
- p.Lys230Arg Single submitter ⚠
- p.Lys277Glu Single submitter ⚠
- p.Lys79Glu Single submitter ⚠
- p.Lys84Arg Single submitter ⚠
- p.Met70Ile Single submitter ⚠
- p.Pro109Thr Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro315Leu Single submitter ⚠
- p.Ser177Thr Single submitter ⚠
- p.Thr115Arg Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr204Ile Single submitter ⚠
- p.Thr204Ser Single submitter ⚠
- p.Thr259Ile Single submitter ⚠
- p.Trp29Ter Single submitter