ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)

dbSNP: rs587783360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145397 SCV000192485 pathogenic Syndromic X-linked intellectual disability Najm type 2014-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000263870 SCV000330585 pathogenic not provided 2016-06-03 criteria provided, single submitter clinical testing The R681X pathogenic variant in the CASK gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R681X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R681X as a pathogenic variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000145397 SCV005884516 pathogenic Syndromic X-linked intellectual disability Najm type 2024-12-31 criteria provided, single submitter clinical testing Variant summary: CASK c.2041C>T (p.Arg681X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 182747 control chromosomes (gnomAD). c.2041C>T has been reported in the literature as a de novo occurrence in an individual affected with features of Syndromic X-Linked Intellectual Disability Najm Type (Murakami_2019). The following publication has been ascertained in the context of this evaluation (PMID: 31044082). ClinVar contains an entry for this variant (Variation ID: 158069). Based on the evidence outlined above, the variant was classified as pathogenic.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000145397 SCV001432384 pathogenic Syndromic X-linked intellectual disability Najm type no assertion criteria provided clinical testing

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