ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)

dbSNP: rs387906704
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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 RCV000022831 SCV000593858 pathogenic Syndromic X-linked intellectual disability Najm type 2015-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000522520 SCV000617381 pathogenic not provided 2017-09-12 criteria provided, single submitter clinical testing The R106X nonsense variant in the CASK gene has been reported previously in two unrelated females with microcephaly, pontine and cerebellar hypoplasia, and intellectual disability (Moog et al., 2011; Hayashi et al., 2012). The R106X variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, many downstream nonsense variants have been reported in the Human Gene Mutation Database in association with CASK-related disorders (Stenson et al., 2014). Therefore, the presence R106X is consistent with the diagnosis of a CASK-related disorder in this individual.
OMIM RCV000022831 SCV000044120 pathogenic Syndromic X-linked intellectual disability Najm type 2011-11-01 no assertion criteria provided literature only

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