SPCS2 — 19 ClinVar variants
All ClinVar germline SPCS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Likely benign · 18 Uncertain significance
Full SPCS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SPCS2 p.Ala207Val Uncertain significance Single submitter
- SPCS2 p.Arg185Gln Uncertain significance Single submitter
- SPCS2 p.Arg214Lys Uncertain significance Single submitter
- SPCS2 p.Asn77Ser Uncertain significance Single submitter
- SPCS2 p.Gln184Arg Uncertain significance Single submitter
- SPCS2 p.Gly16Val Uncertain significance Single submitter
- SPCS2 p.His199Arg Uncertain significance Single submitter
- SPCS2 p.Ile41Val Uncertain significance Single submitter
- SPCS2 p.Lys65Arg Uncertain significance Single submitter
- SPCS2 p.Phe93Ser Uncertain significance Single submitter
- SPCS2 p.Ser138Gly Uncertain significance Single submitter
- SPCS2 p.Ser18Ile Uncertain significance Single submitter
- SPCS2 p.Ser213Ala Uncertain significance Single submitter
- SPCS2 p.Val113Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All SPCS2 variants
Likely benign 1
- p.Ser14Gly Single submitter
Uncertain significance 18
- p.Ala207Val Single submitter ⚠
- p.Ala95Gly Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg214Lys Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Glu188Gly Single submitter
- p.Gly16Val Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.Ile41Val Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Lys65Arg Single submitter ⚠
- p.Met124Ile Single submitter ⚠
- p.Phe93Ser Single submitter ⚠
- p.Ser138Gly Single submitter ⚠
- p.Ser18Ile Single submitter ⚠
- p.Ser213Ala Single submitter ⚠
- p.Val113Ile Single submitter ⚠