ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)

gnomAD frequency: 0.00002  dbSNP: rs267608436
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Total submissions: 4
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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 RCV003328236 SCV004035167 likely benign CDKL5 disorder 2023-08-23 reviewed by expert panel curation The p.Arg65Gln variant in CDKL5 is present in 2 female and 1 male individuals in gnomAD (0.002%) (not sufficient to meet BS1 criteria). The p.Arg65Gln variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Arg65Gln variant is found in 2 patients with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Arg65Gln variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
GeneDx RCV001574209 SCV001800984 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17993579)
Invitae RCV001849961 SCV002176286 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-12-14 criteria provided, single submitter clinical testing
RettBASE RCV000133336 SCV000188345 benign not specified 2014-05-09 no assertion criteria provided curation Reported in paper as c.193C>A, but chromatogram shows c.194G>A; found in unaffected male family member; however, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C35)

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