ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)

gnomAD frequency: 0.00005  dbSNP: rs748459878
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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 RCV003165363 SCV003853564 benign CDKL5 disorder 2023-02-20 reviewed by expert panel curation The allele frequency of the p.Asn748Ser variant in CDKL5 is 0.03683% in African/African American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Asn748Ser variant is observed in at least 1 unaffected individual (PMID: 29264392) (BS2_supporting). In summary, the p.Asn748Ser variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BA1, BA2_supporting).
Eurofins Ntd Llc (ga) RCV000174879 SCV000226272 uncertain significance not provided 2014-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764870 SCV000896026 uncertain significance Developmental and epileptic encephalopathy, 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512607 SCV001720052 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000174879 SCV001768120 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29264392)

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