ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg)

dbSNP: rs1784692399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004548052 SCV004112095 pathogenic CDK13-related disorder 2023-05-18 criteria provided, single submitter clinical testing The CDK13 c.2201A>G variant is predicted to result in the amino acid substitution p.Lys734Arg. This variant has been reported as a de novo finding in individuals with CDK13-related autosomal dominant congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (Lelieveld et al. 2017. PubMed ID: 28867141; 2017. PubMed ID: 28135719; Hamilton et al. 2017. PubMed ID: 29021403; Turner et al. 2019. PubMed ID: 31785789). Additionally, several other missense changes at this same amino acid position have also been reported as de novo and causative (p.Lys734Glu, p.Lys734Thr; Bostwick et al. 2017. PubMed ID: 28807008; https://www.ncbi.nlm.nih.gov/clinvar/variation/1164023/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
GeneReviews RCV001200021 SCV001370885 not provided Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder no assertion provided literature only

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