Submissions for variant NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) (rs1057518203)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413039	SCV000491649	pathogenic	not provided	2018-11-16	criteria provided, single submitter	clinical testing	The Q336X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It 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.
Invitae	RCV000807507	SCV000947563	pathogenic	Early infantile epileptic encephalopathy 2; Angelman syndrome-like	2018-08-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln336*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKL5-related disease. ClinVar contains an entry for this variant (Variation ID: 373086). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.

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