ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.367-1G>A

dbSNP: rs2018375840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250512 SCV001425303 likely pathogenic Okur-Chung neurodevelopmental syndrome 2020-03-06 criteria provided, single submitter clinical testing CSNK2A1 c.367-1G>A is absent from a large population dataset, and has not been reported in ClinVar nor the literature, to our knowledge. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing. We consider this variant to be likely pathogenic.

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