ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.449A>G (p.Lys150Arg) (rs587783083)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144745 SCV000190955 pathogenic not provided 2013-06-06 criteria provided, single submitter clinical testing The Lys150Arg missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,300 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 amino acid substitution is conservative, as Lysine and Arginine are both positively charged amino acids. However, it alters a highly conserved position in the catalytic domain of the protein, and multiple in silico algorithms predict it may be damaging to protein structure/function. Therefore, Lys150Arg is a strong candidate for a disease-causing mutation. This variant has been seen mosaic. The variant is found in EPILEPSY panel(s).

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