ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe) (rs587783071)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144733 SCV000190940 likely pathogenic not provided 2018-10-10 criteria provided, single submitter clinical testing The I41F variant 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 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. This substitution alters a conserved residue in the protein kinase domain of the CDKL5 protein, and missense mutations in nearby residues (A40V, K45Q, and E49K) have been reported in association with CDKL5-related disorders , supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the I41F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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