KYAT1 — 10 ClinVar variants
All ClinVar germline KYAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Benign · 1 Likely benign · 8 Uncertain significance
Full KYAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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.
Predictors split 3
The independent predictors disagree with each other — read with care.
All KYAT1 variants
Benign 1
- c.-6-2041C>T Multiple submitters
Likely benign 1
- p.Gly169Ser Single submitter
Uncertain significance 8
- p.Arg317Cys Single submitter ⚠
- p.Arg349Gly Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asp394Asn Single submitter ⚠
- p.Gly81Ala Single submitter ⚠
- p.Pro380Ser Single submitter ⚠
- p.Thr172Arg Single submitter ⚠
- p.Tyr385Phe Single submitter ⚠