ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn)

dbSNP: rs2147156107
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037703 SCV002233186 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-03-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.844_856delinsA, is a complex sequence change that results in the deletion of 5 and insertion of 1 amino acid(s) in the CDKL5 protein (p.Pro282_Tyr286delinsAsn). This variant has been observed in individual(s) with CDKL5-related conditions (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg285 amino acid residue in CDKL5. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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