ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.761A>G (p.His254Arg)

gnomAD frequency: 0.00006  dbSNP: rs1481627825
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Total submissions: 3
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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 RCV003448399 SCV004176229 benign CDKL5 disorder 2023-06-20 reviewed by expert panel curation The c.761A>G p.His254Arg variant in CDKL5 (NM_001323289.2) is present in 1 XX and 2 XY individuals in gnomAD (0.0036% in the Latino/Admixed American sub population) (not sufficient to meet BS1 criteria). The p.His254Arg variant is observed in at least 2 unaffected individuals (GeneDx internal data) (BS2). The p.His254Arg variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal data) (BP5_Strong). Computational prediction analysis tools are inconclusive for this variant (no criteria met). In summary, the c.761A>G p.His254Arg variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BS2, BP5_Strong).
Invitae RCV001359377 SCV001555242 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001557460 SCV001779226 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing

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