ClinVar Miner

Submissions for variant NM_015076.5(CDK19):c.1486T>A (p.Ser496Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547378 SCV005042926 uncertain significance Developmental and epileptic encephalopathy, 87 criteria provided, single submitter clinical testing The missense c.1486T>A p.Ser496Thr variant in CDK19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser496Thr variant is novel not in any individuals in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. The amino acid change p.Ser496Thr in CDK19 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 496 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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