ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.82C>T (p.Arg28Ter) (rs587783370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145415 SCV000192504 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2014-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000430705 SCV000520898 pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing The R28X variant in the CASK gene has been reported previously as de novo in a female patient with severe intellectual disability, cerebellar atrophy, relative microcephaly, unilateral neurosensory deafness, choreoathetotic movements, and dsytonia (Michaud et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R28X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R28X as a pathogenic variant.
Mendelics RCV000145415 SCV001141842 benign Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2019-05-28 criteria provided, single submitter clinical testing

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