ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) (rs786204967)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169994 SCV000329687 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing The c.1247_1248delAG pathogenic variant in the CDKL5 gene has been reported previously in an individual with epileptic encephalopathy (Raymond et al., 2013). The c.1247_1248delAG variant causes a frameshift starting with codon Glutamic Acid 416, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu416ValfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1247_1248delAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1247_1248delAG as a pathogenic variant.
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416945 SCV000494537 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624117 SCV000740941 pathogenic Inborn genetic diseases 2015-06-09 criteria provided, single submitter clinical testing
RettBASE RCV000169994 SCV000222300 pathogenic not provided 2014-03-13 no assertion criteria provided curation

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