ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) (rs1569219346)

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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 RCV000720910 SCV000851794 pathogenic History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing The p.Q389* pathogenic mutation (also known as c.1165C>T), located in coding exon 11 of the CDKL5 gene, results from a C to T substitution at nucleotide position 1165. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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