ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) (rs267608500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145543 SCV000192636 pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090792 SCV001246514 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
RettBASE RCV000145543 SCV000188392 pathogenic Early infantile 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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