ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.764G>A (p.Arg255His) (rs587783369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494524 SCV000583093 likely pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing The R255H variant in the CASK gene has not been published previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R255H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI. The R255H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The de novo R255H variant is a strong candidate for a pathogenic variant
Genetic Services Laboratory, University of Chicago RCV000145413 SCV000192502 likely pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2014-10-02 criteria provided, single submitter clinical testing

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