ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)

gnomAD frequency: 0.00014  dbSNP: rs61753977
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145515 SCV000192603 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000469300 SCV000558805 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000145515 SCV000722301 likely benign not specified 2017-08-23 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.
Ambry Genetics RCV002316921 SCV000851921 benign Inborn genetic diseases 2017-10-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003884359 SCV004701425 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CDKL5: BS2
PreventionGenetics, part of Exact Sciences RCV003952692 SCV004776597 likely benign CDKL5-related condition 2021-06-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE RCV000145515 SCV000188331 benign not specified 2014-05-09 no assertion criteria provided curation Benign variation, found in normal male relative; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = pathogenic (C65)

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