ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) (rs267608653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133343 SCV000191070 pathogenic not provided 2014-03-19 criteria provided, single submitter clinical testing The V718M missense mutation in the CDKL5 gene has been reported previously as a de novo mutation in a patient with infantile spasms, microcephaly with deceleration of head growth, severe intellectual disability, and limited hand skills (Bahi-Buisson et al., 2008). This mutation alters a highly conserved position in the C-terminal region of the protein. The variant is found in INFANT-EPI panel(s).
RettBASE RCV000169912 SCV000188352 likely pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation No parental studies; highly conserved residue; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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