ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)

gnomAD frequency: 0.00006  dbSNP: rs781427744
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003159618 SCV003853571 benign CDKL5 disorder 2023-02-20 reviewed by expert panel curation The allele frequency of the p.Leu522Val variant in CDKL5 is 0.011% in European Non-Finnish sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Additionally, the p.Leu522Val variant is observed in at least 2 unaffected individuals (internal database - GeneDx, internal database - Ambry Genetics) (BS2) and is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). In summary, the p.Leu522Val variant in CDKL5 is classified as Benign for CDKL5-associated disorder according to ACMG/AMP criteria (BS1, BS2, BP5).
Genetic Services Laboratory, University of Chicago RCV000502210 SCV000593963 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
Invitae RCV000793868 SCV000933245 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000831115 SCV000972856 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000831115 SCV001246517 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CDKL5: BS2

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