ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) (rs587783114)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766721 SCV000191009 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing The c.1455_1460delGGCCAA variant in the CDKL5 gene has been previously identified in a female patient with developmental delay, absent speech, seizures, and difficulty walking; however, it was classified by the authors as a variant of unknown significance because it was inherited from her unaffected mother and both the patient and her mother had normal X-inactivation studies (Maortua et al., 2012). The variant results in an in-frame deletion of two amino acids. Therefore, based on the currently available information, it is unclear whether c.1455_1460delGGCCAA is a pathogenic variant or a rare benign variant.
Invitae RCV000766721 SCV000762090 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing
RettBASE RCV000169974 SCV000222278 likely benign not specified 2014-05-09 no assertion criteria provided curation Found in unaffected female

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