ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2564A>C (p.Asp855Ala)

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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 RCV004818984 SCV005439013 uncertain significance Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2023-07-22 criteria provided, single submitter clinical testing The missense variant c.2564A>C p.Asp855Ala in the CDK13 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Asp at position 855 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The amino acid change p.Asp855Ala in CDK13 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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