PRKAR1B — 166 ClinVar variants
All ClinVar germline PRKAR1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 13 Benign · 11 Benign/Likely benign · 25 Likely benign · 107 Uncertain significance
Full PRKAR1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PRKAR1B p.Arg306Gln
Pathogenic
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
-
PRKAR1B p.Asn309Thr
Likely pathogenic
No assertion criteria
PRKAR1B-related disorder
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRKAR1B p.Arg357Cys
Conflicting
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
-
PRKAR1B p.Glu196Lys
Conflicting
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAR1B p.Ala204Val Uncertain significance Multiple submitters
- PRKAR1B p.Ala6Thr Uncertain significance Multiple submitters
- PRKAR1B p.Arg228Gln Uncertain significance Multiple submitters
-
PRKAR1B p.Arg305Cys
Uncertain significance
Multiple submitters
Marbach-Schaaf neurodevelopmental syndrome
- PRKAR1B p.Gln74Arg Uncertain significance Multiple submitters
- PRKAR1B p.Glu11Lys Uncertain significance Multiple submitters
- PRKAR1B p.Thr85Ser Uncertain significance Multiple submitters
- PRKAR1B p.Ala160Ser Uncertain significance Single submitter
- PRKAR1B p.Ala160Thr Uncertain significance Single submitter
- PRKAR1B p.Ala217Thr Uncertain significance Single submitter
- PRKAR1B p.Ala270Thr Uncertain significance Single submitter
-
PRKAR1B p.Ala336Val
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
- PRKAR1B p.Arg243His Uncertain significance Single submitter
- PRKAR1B p.Arg243Leu Uncertain significance Single submitter
- PRKAR1B p.Arg264Cys Uncertain significance Single submitter
- PRKAR1B p.Arg264His Uncertain significance Single submitter
- PRKAR1B p.Arg264Ser Uncertain significance Single submitter
- PRKAR1B p.Arg335Gln Uncertain significance Single submitter
- PRKAR1B p.Arg352Gln Uncertain significance Single submitter
- PRKAR1B p.Arg352Trp Uncertain significance Single submitter
- PRKAR1B p.Arg368Lys Uncertain significance Single submitter
- PRKAR1B p.Arg95Cys Uncertain significance Single submitter
- PRKAR1B p.Arg95His Uncertain significance Single submitter
- PRKAR1B p.Asn72Ser Uncertain significance Single submitter
- PRKAR1B p.Asp290Asn Uncertain significance Single submitter
- PRKAR1B p.Asp79Asn Uncertain significance Single submitter
- PRKAR1B p.Cys34Phe Uncertain significance Single submitter
- PRKAR1B p.Gln179Glu Uncertain significance Single submitter
- PRKAR1B p.Glu103Val Uncertain significance Single submitter
-
PRKAR1B p.Glu202Asp
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
-
PRKAR1B p.Glu202Lys
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
- PRKAR1B p.Glu356Ala Uncertain significance Single submitter
- PRKAR1B p.Glu52Gln Uncertain significance Single submitter
- PRKAR1B p.Gly171Arg Uncertain significance Single submitter
- PRKAR1B p.Gly197Ala Uncertain significance Single submitter
- PRKAR1B p.Gly201Arg Uncertain significance Single submitter
- PRKAR1B p.Gly208Ser Uncertain significance Single submitter
- PRKAR1B p.Gly26Arg Uncertain significance Single submitter
- PRKAR1B p.Gly343Val Uncertain significance Single submitter
- PRKAR1B p.His158Tyr Uncertain significance Single submitter
- PRKAR1B p.His78Arg Uncertain significance Single submitter
- PRKAR1B p.Ile159Val Uncertain significance Single submitter
- PRKAR1B p.Ile282Val Uncertain significance Single submitter
- PRKAR1B p.Ile377Val Uncertain significance Single submitter
- PRKAR1B p.Leu235Ile Uncertain significance Single submitter
- PRKAR1B p.Lys59Glu Uncertain significance Single submitter
- PRKAR1B p.Lys92Glu Uncertain significance Single submitter
- PRKAR1B p.Phe174Leu Uncertain significance Single submitter
- PRKAR1B p.Phe174Val Uncertain significance Single submitter
- PRKAR1B p.Pro155Ala Uncertain significance Single submitter
- PRKAR1B p.Pro84Leu Uncertain significance Single submitter
- PRKAR1B p.Pro87Ala Uncertain significance Single submitter
- PRKAR1B p.Pro87Leu Uncertain significance Single submitter
- PRKAR1B p.Pro87Thr Uncertain significance Single submitter
- PRKAR1B p.Pro89Ala Uncertain significance Single submitter
- PRKAR1B p.Pro8Ala Uncertain significance Single submitter
-
PRKAR1B p.Ser258Phe
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
- PRKAR1B p.Ser83Leu Uncertain significance Single submitter
- PRKAR1B p.Thr157Ile Uncertain significance Single submitter
- PRKAR1B p.Thr214Asn Uncertain significance Single submitter
- PRKAR1B p.Thr239Met Uncertain significance Single submitter
- PRKAR1B p.Thr266Pro Uncertain significance Single submitter
- PRKAR1B p.Thr299Ala Uncertain significance Single submitter
- PRKAR1B p.Thr85Ile Uncertain significance Single submitter
- PRKAR1B p.Tyr231Cys Uncertain significance Single submitter
- PRKAR1B p.Tyr323Asp Uncertain significance Single submitter
- PRKAR1B p.Val186Leu Uncertain significance Single submitter
- PRKAR1B p.Val313Met Uncertain significance Single submitter
-
PRKAR1B p.Val315Met
Uncertain significance
Single submitter
PRKAR1B-related disorder
- PRKAR1B p.Val82Gly Uncertain significance Single submitter
- PRKAR1B p.Val90Ala Uncertain significance Single submitter
- PRKAR1B p.Leu50Arg Uncertain significance No assertion criteria
Predictors split 18
The independent predictors disagree with each other — read with care.
- PRKAR1B p.Arg305His Uncertain significance Multiple submitters
- PRKAR1B p.Ala160Pro Uncertain significance Single submitter
-
PRKAR1B p.Ala270Val
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
- PRKAR1B p.Ala300Val Uncertain significance Single submitter
- PRKAR1B p.Arg333Gln Likely benign Single submitter
- PRKAR1B p.Arg68Trp Uncertain significance Single submitter
- PRKAR1B p.Asp322Asn Uncertain significance Single submitter
- PRKAR1B p.Cys18Tyr Uncertain significance Single submitter
- PRKAR1B p.Gly188Arg Uncertain significance Single submitter
- PRKAR1B p.Leu223Val Uncertain significance Single submitter
- PRKAR1B p.Leu345Ile Uncertain significance Single submitter
- PRKAR1B p.Phe54Leu Uncertain significance Single submitter
- PRKAR1B p.Pro308Arg Uncertain significance Single submitter
- PRKAR1B p.Ser133Phe Uncertain significance Single submitter
- PRKAR1B p.Thr338Ser Uncertain significance Single submitter
- PRKAR1B p.Val339Ile Uncertain significance Single submitter
- PRKAR1B p.Val340Met Uncertain significance Single submitter
-
PRKAR1B p.Val381Gly
Uncertain significance
Single submitter
Marbach-Schaaf neurodevelopmental syndrome
All PRKAR1B variants
Pathogenic 3
- p.Arg306Gln Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Val302Met Single submitter
- p.Gln167Leu No assertion criteria Marbach-Schaaf neurodevelopmental syndrome
Pathogenic/Likely pathogenic 1
- p.Arg335Trp Multiple submitters Marbach-Schaaf neurodevelopmental syndrome
Likely pathogenic 4
- p.Ala213Val Single submitter Paediatric disorders
- p.Arg243Cys Single submitter PRKAR1B-related disorder
- p.Trp190Ter Single submitter Marbach-Schaaf neurodevelopmental syndrome
- p.Asn309Thr No assertion criteria PRKAR1B-related disorder ⚠
Conflicting classifications of pathogenicity 2
- p.Arg357Cys Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Glu196Lys Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
Benign 13
- c.709-6G>A Multiple submitters
- p.Ile40Val Multiple submitters
- c.178-3C>T Single submitter
- c.892-18G>C Single submitter
- c.974-8A>C Single submitter
- p.Ala328= Single submitter
- p.Ile282= Single submitter
- p.Phe355= Single submitter
- p.Pro86= Single submitter
- p.Thr219= Single submitter
- p.Thr338= Single submitter
- p.Val339= Single submitter
- c.709-16A>C No assertion criteria
Benign/Likely benign 11
- p.Ala139Ser Multiple submitters
- p.Ala270= Multiple submitters
- p.Ala336= Multiple submitters
- p.Glu311= Multiple submitters
- p.Gly171= Multiple submitters
- p.Phe324= Multiple submitters
- p.Pro273= Multiple submitters
- p.Ser301= Multiple submitters
- p.Thr214= Multiple submitters
- p.Thr299= Multiple submitters
- p.Tyr312= Multiple submitters
Likely benign 25
- c.708+6T>C Multiple submitters
- p.Pro87= Multiple submitters
- c.177+14G>T Single submitter
- c.549+3573C>T Single submitter
- c.549+3647G>A Single submitter
- c.549+9C>T Single submitter
- c.550-11G>T Single submitter
- c.770-6C>T Single submitter
- c.891+7C>T Single submitter
- c.892-13C>T Single submitter
- c.974-19CT[3] Single submitter
- p.Ala110= Single submitter
- p.Arg333Gln Single submitter ⚠
- p.Arg68Gln Single submitter
- p.Asn62= Single submitter
- p.Ile365= Single submitter
- p.Lys48Arg Single submitter
- p.Pro308= Single submitter
- p.Pro334= Single submitter
- p.Pro89= Single submitter
- p.Ser251Arg Single submitter
- p.Ser75= Single submitter
- p.Tyr113= Single submitter
- p.Tyr21= Single submitter
- p.Val176= No assertion criteria PRKAR1B-related disorder
Uncertain significance 107
- p.Ala204Val Multiple submitters ⚠
- p.Ala6Thr Multiple submitters ⚠
- p.Arg228Gln Multiple submitters ⚠
- p.Arg305Cys Multiple submitters Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Arg305His Multiple submitters ⚠
- p.Gln74Arg Multiple submitters ⚠
- p.Glu11Lys Multiple submitters ⚠
- p.Thr85Ser Multiple submitters ⚠
- c.441-3442T>C Single submitter
- c.549+3G>C Single submitter
- c.549+5G>T Single submitter
- c.974-5C>G Single submitter
- p.Ala160Pro Single submitter ⚠
- p.Ala160Ser Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Ala270Thr Single submitter ⚠
- p.Ala270Val Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Ala300Val Single submitter ⚠
- p.Ala336Val Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Arg243His Single submitter ⚠
- p.Arg243Leu Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg264His Single submitter ⚠
- p.Arg264Ser Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg352Trp Single submitter ⚠
- p.Arg368Lys Single submitter ⚠
- p.Arg372Leu Single submitter
- p.Arg68Trp Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp322Asn Single submitter ⚠
- p.Asp79Asn Single submitter ⚠
- p.Cys18Tyr Single submitter ⚠
- p.Cys34Phe Single submitter ⚠
- p.Gln179= Single submitter
- p.Gln179Glu Single submitter ⚠
- p.Gln28His Single submitter
- p.Gln69fs Single submitter
- p.Glu103Val Single submitter ⚠
- p.Glu202Asp Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Glu202Lys Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Glu247Gln Single submitter
- p.Glu356Ala Single submitter ⚠
- p.Glu52Gln Single submitter ⚠
- p.Glu60Ter Single submitter Marbach-Schaaf neurodevelopmental syndrome
- p.Glu61Lys Single submitter
- p.Gly171Arg Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly197Ala Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly208Ser Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly343Val Single submitter ⚠
- p.Gly99Ser Single submitter
- p.His158Tyr Single submitter ⚠
- p.His78Arg Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile377Val Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Leu235Ile Single submitter ⚠
- p.Leu345fs Single submitter
- p.Leu345Ile Single submitter ⚠
- p.Lys59Glu Single submitter ⚠
- p.Lys92Glu Single submitter ⚠
- p.Met1Val Single submitter
- p.Met245Ile Single submitter
- p.Phe174Leu Single submitter ⚠
- p.Phe174Val Single submitter ⚠
- p.Phe54Leu Single submitter ⚠
- p.Pro155Ala Single submitter ⚠
- p.Pro308Arg Single submitter ⚠
- p.Pro361fs Single submitter
- p.Pro84Leu Single submitter ⚠
- p.Pro87Ala Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Pro87Thr Single submitter ⚠
- p.Pro89Ala Single submitter ⚠
- p.Pro8Ala Single submitter ⚠
- p.Ser133Phe Single submitter ⚠
- p.Ser258Phe Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Ser83Leu Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr214Asn Single submitter ⚠
- p.Thr239Met Single submitter ⚠
- p.Thr266Pro Single submitter ⚠
- p.Thr299Ala Single submitter ⚠
- p.Thr338Ser Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Tyr231Cys Single submitter ⚠
- p.Tyr323Asp Single submitter ⚠
- p.Tyr323Ter Single submitter
- p.Tyr373Ter Single submitter
- p.Val186Leu Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val315Met Single submitter PRKAR1B-related disorder ⚠
- p.Val339Ile Single submitter ⚠
- p.Val340Met Single submitter ⚠
- p.Val381Gly Single submitter Marbach-Schaaf neurodevelopmental syndrome ⚠
- p.Val82Gly Single submitter ⚠
- p.Val90Ala Single submitter ⚠
- p.Leu50Arg No assertion criteria ⚠