ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.626T>C (p.Leu209Pro) (rs1556014749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498072 SCV000590583 likely pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing The L209P variant in the CASK gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L209P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L209P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L209P as a likely pathogenic variant.
Laboratory for Cytogenetics and Genome Research,KU Leuven RCV000621770 SCV000611618 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2017-11-01 criteria provided, single submitter research de novo variant in individual with severe postnatal microcephaly, delayed psychomotor development, nystagmus, etc

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