ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter)

dbSNP: rs1064794022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482053 SCV000567609 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The R428X variant in the CNKSR2 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The R428X variant wasnot observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretR428X as a pathogenic variant.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000482053 SCV000803682 likely pathogenic not provided 2017-07-10 no assertion criteria provided clinical testing

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