ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)

dbSNP: rs587783361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145398 SCV000192486 pathogenic Syndromic X-linked intellectual disability Najm type 2013-02-08 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000145398 SCV001164453 likely pathogenic Syndromic X-linked intellectual disability Najm type 2018-12-03 criteria provided, single submitter research The heterozygous p.Gln692Ter variant in CASK was identified by our study in one individual with mental retardation and microcephaly with pontine and cerebellar hypoplasia. This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 692, which is predicted to lead to a truncated or absent protein. Loss of function of the CASK gene is an established disease mechanism in autosomal recessive mental retardation and microcephaly with pontine and cerebellar hypoplasia. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015).

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