OSTC — 10 ClinVar variants
All ClinVar germline OSTC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Likely benign · 9 Uncertain significance
Full OSTC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OSTC p.Arg106Gln Uncertain significance Single submitter
-
OSTC p.Gly97Glu
Uncertain significance
Single submitter
OSTC-related Disorders
- OSTC p.Ile123Val Uncertain significance Single submitter
- OSTC p.Leu143Pro Uncertain significance Single submitter
- OSTC p.Val126Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All OSTC variants
Likely benign 1
- p.Pro144= Single submitter
Uncertain significance 9
- p.Ala73Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Gln69His Single submitter ⚠
- p.Gly97Glu Single submitter OSTC-related Disorders ⚠
- p.Ile123Val Single submitter ⚠
- p.Leu143Pro Single submitter ⚠
- p.Met139Leu Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Val126Ile Single submitter ⚠