SPCS3 — 12 ClinVar variants
All ClinVar germline SPCS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full SPCS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SPCS3 p.Ala99Val Uncertain significance Single submitter
- SPCS3 p.Arg140Lys Uncertain significance Single submitter
- SPCS3 p.Arg60Gly Uncertain significance Single submitter
- SPCS3 p.His165Gln Uncertain significance Single submitter
- SPCS3 p.Leu144Phe Uncertain significance Single submitter
- SPCS3 p.Met123Thr Uncertain significance Single submitter
- SPCS3 p.Met47Ile Uncertain significance Single submitter
- SPCS3 p.Thr177Met Uncertain significance Single submitter
- SPCS3 p.Val104Phe Uncertain significance Single submitter
- SPCS3 p.Val151Ile Uncertain significance Single submitter
- SPCS3 p.Val166Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All SPCS3 variants
Uncertain significance 12
- p.Ala99Val Single submitter ⚠
- p.Arg140Lys Single submitter ⚠
- p.Arg60Gly Single submitter ⚠
- p.His165Gln Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Lys124Glu Single submitter ⚠
- p.Met123Thr Single submitter ⚠
- p.Met47Ile Single submitter ⚠
- p.Thr177Met Single submitter ⚠
- p.Val104Phe Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val166Ile Single submitter ⚠