SCD — 25 ClinVar variants
All ClinVar germline SCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
3 Benign · 2 Likely benign · 20 Uncertain significance
Full SCD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SCD p.Arg155Gly Uncertain significance Single submitter
- SCD p.Gln243His Uncertain significance Single submitter
- SCD p.Gln29Lys Uncertain significance Single submitter
- SCD p.Gly352Arg Uncertain significance Single submitter
- SCD p.Ile50Thr Uncertain significance Single submitter
- SCD p.Ile90Val Uncertain significance Single submitter
- SCD p.Leu136Phe Uncertain significance Single submitter
- SCD p.Leu136Pro Uncertain significance Single submitter
- SCD p.Met144Val Uncertain significance Single submitter
- SCD p.Phe177Leu Uncertain significance Single submitter
- SCD p.Ser198Arg Uncertain significance Single submitter
- SCD p.Thr199Met Uncertain significance Single submitter
- SCD p.Thr37Arg Uncertain significance Single submitter
- SCD p.Val105Ile Uncertain significance Single submitter
- SCD p.Val248Ile Uncertain significance Single submitter
- SCD p.Val293Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All SCD variants
Benign 3
- p.Tyr308= Multiple submitters
- p.Lys68= Single submitter
- p.Pro48Arg Single submitter
Likely benign 2
- p.Met38Thr Single submitter
- p.Phe98Leu Single submitter
Uncertain significance 20
- p.Ala292Ser Single submitter ⚠
- p.Ala328Val Single submitter ⚠
- p.Arg155Gly Single submitter ⚠
- p.Gln243His Single submitter ⚠
- p.Gln29Lys Single submitter ⚠
- p.Gly352Arg Single submitter ⚠
- p.Ile50Thr Single submitter ⚠
- p.Ile90Val Single submitter ⚠
- p.Leu136Phe Single submitter ⚠
- p.Leu136Pro Single submitter ⚠
- p.Lys68Met Single submitter ⚠
- p.Met144Val Single submitter ⚠
- p.Phe177Leu Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Ser198Arg Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Thr37Arg Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val248Ile Single submitter ⚠
- p.Val293Met Single submitter ⚠