ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1942_1944+2delinsA (rs1555952163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000593520 SCV000709689 pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing The c.1942_1944+2delCAGGTinsA variant results in the deletion of 5 nucleotides and the insertion of 1nucleotide spanning the junction of exon 12 and intron 12 and is expected to destroy the natural splicedonor site in intron 12, leading to abnormal gene splicing. It was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Other splice variants have been reportedin the Human Gene Mutation Database in association with CDKL5-related disorders (Stenson et al.,2014). Although c.1942_1944+2delCAGGTinsA has not been previously reported to our knowledge, we consider it to be pathogenic.

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