ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) (rs587783072)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144734 SCV000190941 pathogenic not provided 2013-09-19 criteria provided, single submitter clinical testing The Asn71Asp missense mutation in the CDKL5 gene has been reported previously as a de novo mutation in a female with the early-onset seizure variant of Rett syndrome (Artuso et al., 2010). It is a non-conservative amino acid substitution of an uncharged Asparagine residue with a negatively charged Aspartic acid residue at a position that is conserved across species. The variant is found in EPILEPSY panel(s).
RettBASE RCV000169981 SCV000222286 likely pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Highly conserved amino acid in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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