PRKCI — 40 ClinVar variants
All ClinVar germline PRKCI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
3 Likely benign · 37 Uncertain significance
Full PRKCI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKCI p.Arg272Gln Uncertain significance Single submitter
- PRKCI p.Asn139Ser Uncertain significance Single submitter
- PRKCI p.Asn173Ser Uncertain significance Single submitter
- PRKCI p.Asp204Gly Uncertain significance Single submitter
- PRKCI p.Asp567Glu Uncertain significance Single submitter
- PRKCI p.Gln205Glu Uncertain significance Single submitter
- PRKCI p.Glu63Gln Uncertain significance Single submitter
- PRKCI p.Glu63Lys Uncertain significance Single submitter
- PRKCI p.His354Pro Uncertain significance Single submitter
- PRKCI p.Ile188Thr Uncertain significance Single submitter
- PRKCI p.Ile374Val Uncertain significance Single submitter
- PRKCI p.Leu364Val Uncertain significance Single submitter
- PRKCI p.Leu65Arg Uncertain significance Single submitter
- PRKCI p.Lys275Arg Uncertain significance Single submitter
- PRKCI p.Met237Val Uncertain significance Single submitter
- PRKCI p.Met443Val Uncertain significance Single submitter
- PRKCI p.Phe539Leu Uncertain significance Single submitter
- PRKCI p.Pro482Gln Uncertain significance Single submitter
- PRKCI p.Ser223Asn Uncertain significance Single submitter
- PRKCI p.Ser359Ala Uncertain significance Single submitter
- PRKCI p.Thr187Ala Uncertain significance Single submitter
- PRKCI p.Trp437Arg Uncertain significance Single submitter
- PRKCI p.Tyr219Cys Uncertain significance Single submitter
- PRKCI p.Val186Ile Uncertain significance Single submitter
- PRKCI p.Val200Ala Uncertain significance Single submitter
- PRKCI p.Val536Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PRKCI p.Ala89Gly Uncertain significance Single submitter
- PRKCI p.Arg147Cys Uncertain significance Single submitter
- PRKCI p.Asp568Asn Uncertain significance Single submitter
- PRKCI p.Asp98Gly Uncertain significance Single submitter
- PRKCI p.Glu87Gln Uncertain significance Single submitter
- PRKCI p.Gly243Asp Uncertain significance Single submitter
- PRKCI p.Ile124Met Uncertain significance Single submitter
- PRKCI p.Pro520Leu Uncertain significance Single submitter
All PRKCI variants
Likely benign 3
- c.1292-5T>G No assertion criteria PRKCI-related disorder
- c.223+3G>A No assertion criteria PRKCI-related disorder
- p.Val299= No assertion criteria PRKCI-related disorder
Uncertain significance 37
- p.Ala365Gly Single submitter
- p.Ala89Gly Single submitter ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Asn139Ser Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asn367Asp Single submitter
- p.Asp204Gly Single submitter ⚠
- p.Asp567Glu Single submitter ⚠
- p.Asp568Asn Single submitter ⚠
- p.Asp98Gly Single submitter ⚠
- p.Gln205Glu Single submitter ⚠
- p.Glu63Gln Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Glu87Gln Single submitter ⚠
- p.Gly243Asp Single submitter ⚠
- p.His354Pro Single submitter ⚠
- p.Ile124Met Single submitter ⚠
- p.Ile188Thr Single submitter ⚠
- p.Ile374Val Single submitter ⚠
- p.Leu364Val Single submitter ⚠
- p.Leu65Arg Single submitter ⚠
- p.Lys275Arg Single submitter ⚠
- p.Met237Val Single submitter ⚠
- p.Met443Val Single submitter ⚠
- p.Phe539Leu Single submitter ⚠
- p.Pro351Ala Single submitter
- p.Pro482Gln Single submitter ⚠
- p.Pro520Leu Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser359Ala Single submitter ⚠
- p.Thr187Ala Single submitter ⚠
- p.Trp437Arg Single submitter ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Val186Ile Single submitter ⚠
- p.Val200Ala Single submitter ⚠
- p.Val536Ile Single submitter ⚠