PRKCB — 61 ClinVar variants
All ClinVar germline PRKCB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Pathogenic · 1 Conflicting · 8 Benign · 1 Benign/Likely benign · 7 Likely benign · 43 Uncertain significance
Full PRKCB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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PRKCB p.Gly332Ala
Conflicting
Single submitter
PRKCB-related disorder
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKCB p.Ala395Thr Uncertain significance Single submitter
- PRKCB p.Arg158Cys Uncertain significance Single submitter
- PRKCB p.Arg159His Uncertain significance Single submitter
- PRKCB p.Arg392Gln Uncertain significance Single submitter
- PRKCB p.Arg415Cys Uncertain significance Single submitter
- PRKCB p.Arg415His Uncertain significance Single submitter
- PRKCB p.Asp96Tyr Uncertain significance Single submitter
- PRKCB p.Gln165Glu Uncertain significance Single submitter
- PRKCB p.Glu14Val Uncertain significance Single submitter
- PRKCB p.Glu15Lys Uncertain significance Single submitter
- PRKCB p.Gly351Ser Uncertain significance Single submitter
- PRKCB p.Gly7Glu Uncertain significance Single submitter
- PRKCB p.His32Leu Uncertain significance Single submitter
- PRKCB p.Leu259Met Uncertain significance Single submitter
- PRKCB p.Lys327Arg Uncertain significance Single submitter
- PRKCB p.Met136Val Uncertain significance Single submitter
- PRKCB p.Met388Val Uncertain significance Single submitter
- PRKCB p.Met473Ile Uncertain significance Single submitter
- PRKCB p.Met576Thr Uncertain significance Single submitter
- PRKCB p.Pro47Leu Uncertain significance Single submitter
- PRKCB p.Thr108Met Uncertain significance Single submitter
- PRKCB p.Val172Ile Uncertain significance Single submitter
- PRKCB p.Val242Ala Uncertain significance Single submitter
- PRKCB p.Val377Ile Uncertain significance Single submitter
- PRKCB p.Val384Met Uncertain significance Single submitter
- PRKCB p.Val393Leu Uncertain significance Single submitter
- PRKCB p.Val472Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PRKCB p.Ala2Pro Uncertain significance Single submitter
- PRKCB p.Ala539Thr Uncertain significance Single submitter
- PRKCB p.Ala6Thr Uncertain significance Single submitter
- PRKCB p.Ala6Val Uncertain significance Single submitter
- PRKCB p.Arg336Gln Uncertain significance Single submitter
- PRKCB p.Arg437Gln Uncertain significance Single submitter
- PRKCB p.Asn424Asp Uncertain significance Single submitter
- PRKCB p.Asp169Asn Uncertain significance Single submitter
- PRKCB p.Lys460Arg Uncertain significance Single submitter
- PRKCB p.Pro317Leu Uncertain significance Single submitter
- PRKCB p.Ser110Ala Uncertain significance Single submitter
- PRKCB p.Thr340Pro Uncertain significance Single submitter
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PRKCB p.Asn298Ser
Likely benign
No assertion criteria
PRKCB-related disorder
All PRKCB variants
Pathogenic 1
- p.Gly92Val No assertion criteria Progressive sensorineural hearing impairment
Conflicting classifications of pathogenicity 1
- p.Gly332Ala Single submitter PRKCB-related disorder ⚠
Benign 8
- c.1395-4A>G Multiple submitters
- p.Ile174= Multiple submitters
- c.1723-4G>A Single submitter
- p.Ser234= Single submitter
- p.Thr54= Single submitter
- c.1332-10_1332-9del No assertion criteria PRKCB-related disorder
- p.Arg238= No assertion criteria PRKCB-related disorder
- p.Pro202= No assertion criteria PRKCB-related disorder
Benign/Likely benign 1
- p.Lys29= Multiple submitters
Likely benign 7
- p.Pro400= Multiple submitters
- p.Asp171= Single submitter
- p.Gln516= Single submitter
- c.*5171C>T No assertion criteria PRKCB-related disorder
- p.Asn298Ser No assertion criteria PRKCB-related disorder ⚠
- p.Lys327= No assertion criteria PRKCB-related disorder
- p.Pro669= No assertion criteria PRKCB-related disorder
Uncertain significance 43
- p.Ala2Pro Single submitter ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala539Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg635Cys Single submitter
- p.Asn424Asp Single submitter ⚠
- p.Asn650Ser Single submitter
- p.Asn663Tyr Single submitter
- p.Asp169Asn Single submitter ⚠
- p.Asp96Tyr Single submitter ⚠
- p.Gln165Glu Single submitter ⚠
- p.Glu14Val Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Gly351Ser Single submitter ⚠
- p.Gly7Glu Single submitter ⚠
- p.His32Leu Single submitter ⚠
- p.Leu259Met Single submitter ⚠
- p.Lys327Arg Single submitter ⚠
- p.Lys460Arg Single submitter ⚠
- p.Met136Val Single submitter ⚠
- p.Met388Val Single submitter ⚠
- p.Met473Ile Single submitter ⚠
- p.Met576Thr Single submitter ⚠
- p.Pro317Leu Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Ser110Ala Single submitter ⚠
- p.Thr108Met Single submitter ⚠
- p.Thr340Pro Single submitter ⚠
- p.Val172Ile Single submitter ⚠
- p.Val242Ala Single submitter ⚠
- p.Val377Ile Single submitter ⚠
- p.Val384Met Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val472Met Single submitter ⚠
- p.Val671Phe Single submitter