PCBP1 — 28 ClinVar variants
All ClinVar germline PCBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 17 Uncertain significance
Full PCBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PCBP1 p.Pro182Ser
Likely pathogenic
Single submitter
neurodevelopmental disorder
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PCBP1 p.Ala3Val Uncertain significance Single submitter
- PCBP1 p.Ala92Ser Uncertain significance Single submitter
- PCBP1 p.Gly254Glu Uncertain significance Single submitter
- PCBP1 p.Ile181Val Uncertain significance Single submitter
- PCBP1 p.Ile230Val Uncertain significance Single submitter
-
PCBP1 p.Met251Lys
Uncertain significance
Single submitter
neurodevelopmental disorder
- PCBP1 p.Pro217Thr Uncertain significance Single submitter
- PCBP1 p.Pro218Leu Uncertain significance Single submitter
- PCBP1 p.Ser189Gly Uncertain significance Single submitter
- PCBP1 p.Thr229Ser Uncertain significance Single submitter
- PCBP1 p.Val267Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
-
PCBP1 p.Arg46Gln
Uncertain significance
Single submitter
neurodevelopmental disorder
- PCBP1 p.Asn289Ile Uncertain significance Single submitter
-
PCBP1 p.Lys160Thr
Likely pathogenic
Single submitter
neurodevelopmental disorder
- PCBP1 p.Lys78Arg Uncertain significance Single submitter
- PCBP1 p.Ser349Cys Uncertain significance Single submitter
-
PCBP1 p.Thr13Ile
Uncertain significance
Single submitter
neurodevelopmental disorder
- PCBP1 p.Val12Met Uncertain significance Single submitter
All PCBP1 variants
Pathogenic 8
- p.Asn89fs Single submitter neurodevelopmental disorder
- p.Gln172Ter Single submitter neurodevelopmental disorder
- p.Glu56fs Single submitter neurodevelopmental disorder
- p.His209fs Single submitter neurodevelopmental disorder
- p.Leu290Ter Single submitter neurodevelopmental disorder
- p.Met1Val Single submitter neurodevelopmental disorder
- p.Met250fs Single submitter neurodevelopmental disorder
- p.Val155fs Single submitter neurodevelopmental disorder
Pathogenic/Likely pathogenic 1
- p.Gln184Ter Multiple submitters neurodevelopmental disorder
Likely pathogenic 2
- p.Lys160Thr Single submitter neurodevelopmental disorder ⚠
- p.Pro182Ser Single submitter neurodevelopmental disorder ⚠
Uncertain significance 17
- p.Ala3Val Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Arg46Gln Single submitter neurodevelopmental disorder ⚠
- p.Asn289Ile Single submitter ⚠
- p.Gly254Glu Single submitter ⚠
- p.Ile181Val Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Lys78Arg Single submitter ⚠
- p.Met251Lys Single submitter neurodevelopmental disorder ⚠
- p.Pro217Thr Single submitter ⚠
- p.Pro218Leu Single submitter ⚠
- p.Ser189Gly Single submitter ⚠
- p.Ser349Cys Single submitter ⚠
- p.Thr13Ile Single submitter neurodevelopmental disorder ⚠
- p.Thr229Ser Single submitter ⚠
- p.Val12Met Single submitter ⚠
- p.Val267Ala Single submitter ⚠