ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.596T>C (p.Leu199Pro)

dbSNP: rs587783569
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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 RCV000145871 SCV000193008 likely pathogenic Ectopic tissue 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000478870 SCV000571103 likely pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing The L199P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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. The L199P 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with DCX-related disorder (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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