ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2095G>T (p.Glu699Ter) (rs886041673)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000307290 SCV000330394 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing The de novo E699X variant in the CDKL5 gene has not been published as a pathogenic variant, nor has it been reported as abenign variant to our knowledge. The E699X nonsense variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Furthermore, it was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. Although this variant has not beenreported previously to our knowledge, other nonsense variants have been reported in the Human Gene MutationDatabase in association with CDKL5-related disorders (Stenson et al., 2014).

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