CITED1 — 22 ClinVar variants
All ClinVar germline CITED1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Benign · 3 Likely benign · 18 Uncertain significance
Full CITED1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CITED1 p.Ala118Thr Uncertain significance Single submitter
- CITED1 p.Ala187Val Uncertain significance Single submitter
- CITED1 p.Asn171Ser Uncertain significance Single submitter
- CITED1 p.Asn23His Uncertain significance Single submitter
- CITED1 p.Asn53Ser Uncertain significance Single submitter
- CITED1 p.Gly116Arg Uncertain significance Single submitter
- CITED1 p.Gly119Arg Uncertain significance Single submitter
- CITED1 p.Gly59Glu Uncertain significance Single submitter
- CITED1 p.Ile147Met Uncertain significance Single submitter
- CITED1 p.Ile147Val Uncertain significance Single submitter
- CITED1 p.Pro120Leu Uncertain significance Single submitter
- CITED1 p.Pro17Ser Uncertain significance Single submitter
- CITED1 p.Ser58Gly Uncertain significance Single submitter
- CITED1 p.Thr186Ile Uncertain significance Single submitter
- CITED1 p.Val11Gly Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CITED1 variants
Benign 1
- p.Val162= Multiple submitters
Likely benign 3
- c.-33G>A Single submitter
- p.Ala88Thr Single submitter
- p.Asp10Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 18
- p.Ala118Thr Single submitter ⚠
- p.Ala130Glu Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Asn171Ser Single submitter ⚠
- p.Asn23His Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asn53Tyr Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly59Glu Single submitter ⚠
- p.Ile147Met Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Ser58Gly Single submitter ⚠
- p.Thr186Ile Single submitter ⚠
- p.Val11Gly Single submitter ⚠