ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.577G>A (p.Asp193Asn)

dbSNP: rs587783086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144748 SCV000190961 pathogenic not provided 2012-11-27 criteria provided, single submitter clinical testing The Asp193Asn missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Asp193Asn in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a positively charged Aspartic acid residue is replaced by an uncharged Asparagine residue. Asp193Asn alters a highly conserved position in the catalytic domain of the CDKL5 protein, and mutations have been reported at many neighboring codons, confirming the functional importance of this region (Bertani et al., 2006; Kilstrup-Nielsen et al., 2012). In addition, multiple in silico algorithms predict it may be damaging to the structure/function of the protein. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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