ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.99+5G>A (rs587783131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144803 SCV000191029 pathogenic not provided 2012-02-29 criteria provided, single submitter clinical testing The c.99+5 G>A mutation in the CDKL5 gene has been previously reported in two individuals with early onset epilepsy. A male with early onset intractable seizures, infantile spasms, and severe intellectual disability had somatic mosaicism for the c.99+5 G>A mutation (Masilah Plachon et al., 2010). Additionally, a female with intractable epilepsy, severe intellectual disability, hypotonia, and spastic tetraparesis was reported to harbor a de novo c.99+5 G>A mutation (Stalpers et al., 2012). The c.99+5 G>A mutation damages the native splice donor site at the exon 3/intron 3 junction of the CDKL5 gene. In vitro mRNA studies indicate that it leads to skipping of exon 3, which is predicted to lead to loss of function due to protein truncation (Masilah Plachon et al., 2010). The variant is found in INFANT-EPI panel(s).
RettBASE RCV000170059 SCV000222368 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Causes skipping of exon 3

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