ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu) (rs587783081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144743 SCV000190953 pathogenic not provided 2013-05-03 criteria provided, single submitter clinical testing The Pro138Leu 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. Although Proline and Leucine are both uncharged, non-polar amino acids, the loss of a bulky Proline residue may affect the secondary structure of the protein. It alters a highly conserved position in the S/T kinase active site in the catalytic domain of the protein (Kilstrup-Nielsen et al., 2012), and multiple in silico algorithms predict Pro138Leu may be damaging to protein structure/function. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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