Submissions for variant NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) (rs267608490)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000133371	SCV000190956	pathogenic	not provided	2017-03-03	criteria provided, single submitter	clinical testing	The c.513 C>A variant, resulting in the Y171X nonsense variant in the CDKL5 gene, has beenreported previously as a de novo finding in a male with early-onset epilepsy (Mirzaa et al., 2013).This variant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, a differentnucleotide substitution (c.513 C>G) that also results in the Y171X nonsense variant was previouslyidentified in a female with features of a CDKL5-related disorder (Sartori et al., 2011). We interpretY171X as a pathogenic variant.
Genetic Services Laboratory, University of Chicago	RCV000145541	SCV000192633	pathogenic	Early infantile epileptic encephalopathy 2	2013-02-08	criteria provided, single submitter	clinical testing
RettBASE	RCV000145541	SCV000188385	pathogenic	Early infantile epileptic encephalopathy 2	2014-03-13	no assertion criteria provided	curation	Early truncation, partial loss the phophorylation site

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