ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2152+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV005215801 SCV005687491 pathogenic Developmental and epileptic encephalopathy, 2 criteria provided, single submitter clinical testing A splice variant c.2152+1G>C (g.18609571G>C) is observed in intron 14 of CDKL5 in heterozygous state. This variant is not observed in the gnomAD database. In-silico analysis tool SpliceAI predicts this variant in CDKL5 to cause aberrant splicing. ACMG criteria met: PVS1:Null variant in a gene where the loss of function is a known mechanism of disease PM6: De novo variant PM2_Supporting: Extremely low frequency in gnomAD population databases

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