PCSK6 — 19 ClinVar variants
All ClinVar germline PCSK6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Conflicting · 8 Benign · 9 Likely benign · 1 Uncertain significance
Full PCSK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All PCSK6 variants
Conflicting classifications of pathogenicity 1
- p.Asn161= Single submitter
Benign 8
- c.1533-6C>G Multiple submitters
- p.Pro455= Multiple submitters
- p.Pro64fs Multiple submitters
- p.Gly853Arg Single submitter
- p.Gly93= Single submitter
- p.Leu571= Single submitter
- p.Val465= Single submitter
- p.Val503Ala Single submitter
Likely benign 9
- p.Ala867Val Multiple submitters
- p.Thr964Met Multiple submitters
- p.Ala33= Single submitter
- p.Ala529= Single submitter
- p.Asp309= Single submitter
- p.Cys357= Single submitter
- p.Gly38_Pro39insAlaGlyGly Single submitter
- p.Lys805= Single submitter
- p.Thr525= Single submitter