ClinVar Miner

Submissions for variant NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)

dbSNP: rs76344857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001799131 SCV002525746 likely pathogenic Marbach-Schaaf neurodevelopmental syndrome 2022-06-03 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Marbach-Schaaf neurodevelopmental syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2 downgraded to moderate); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001799131 SCV002759328 uncertain significance Marbach-Schaaf neurodevelopmental syndrome 2022-12-07 criteria provided, single submitter clinical testing Variant was inherited from unaffected mother.
OMIM RCV001799131 SCV002041903 pathogenic Marbach-Schaaf neurodevelopmental syndrome 2021-12-23 no assertion criteria provided literature only

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