ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)

dbSNP: rs267608500
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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 RCV001507046 SCV001712002 likely pathogenic CDKL5 disorder 2021-03-26 reviewed by expert panel curation The p.Asp193Gly variant in CDKL5 has been reported in at least 2 de novo occurrences (biological parentage unconfirmed) in affected individuals (PMID 23583054) (PM6_Strong). The p.Asp193Gly variant in CDKL5 is absent from gnomAD (PM2_Supporting). The variant has been reported to segregate in two informative meioses (PMID: 23583054) (PP1). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). The p.Asp193Gly variant in CDKL5 has been reported in an individual with a clinical phenotype suggestive of a CDKL5-associated disorder (PP4). In summary, the p.Asp193Gly variant in CDKL5 is classified as likely pathogenic for CDKL5-associated disorder based on the ACMG/AMP criteria (PM6_strong, PM2_supporting, PP1, PP3, PP4).
Genetic Services Laboratory, University of Chicago RCV000145543 SCV000192636 pathogenic Developmental and epileptic encephalopathy, 2 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090792 SCV001246514 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
RettBASE RCV000145543 SCV000188392 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Mutation also found in affected half-siblings, likely maternal germline mosaicism; mutation not seen in asymptomatic mother; highly conserved amino acid, in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65)

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