ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)

dbSNP: rs1034583315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269781 SCV001450036 likely pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001269781 SCV001817911 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127746 SCV003804093 likely pathogenic Autism spectrum disorder criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004698432 SCV005199952 likely pathogenic Okur-Chung neurodevelopmental syndrome 2024-08-26 criteria provided, single submitter clinical testing

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