ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.666del (p.Ile223fs) (rs1569215645)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715082 SCV000845907 pathogenic History of neurodevelopmental disorder 2016-05-27 criteria provided, single submitter clinical testing The c.666delT pathogenic mutation, located in coding exon 8 of the CDKL5 gene, results from a deletion of one nucleotide at position 666, causing a translational frameshift with a predicted alternate stop codon (p.I223FFS*5). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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