ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)

dbSNP: rs1380843831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814933 SCV002061862 likely pathogenic Okur-Chung neurodevelopmental syndrome 2021-06-10 criteria provided, single submitter clinical testing PVS1, PM2
GeneDx RCV002280191 SCV002568556 likely pathogenic not provided 2022-08-26 criteria provided, single submitter clinical testing 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33004838)

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