ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) (rs878853160)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000417211 SCV000281758 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2016-05-12 criteria provided, single submitter research
GeneDx RCV000498452 SCV000589447 pathogenic not provided 2018-11-15 criteria provided, single submitter clinical testing The N842S variant in the CDK13 gene is a recurrent variant that has been reported previously as a de novo finding in multiple unrelated individuals with global developmental delay or intellectual disability, congenital heart defects, and dysmorphic features (Sifrim et al., 2016; Hamilton et al., 2018). At least one individual has been reported with global developmental delay, hypotonia, hearing loss, and dysmorphic features, but no heart defect (Uehara et al., 2018). The N842S variant has also been identified as a de novo finding with confirmed parentage in multiple individuals with syndromic developmental delay or intellectual disability previously tested at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016). Although N842S is a conservative amino acid substitution, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, a missense variant in the same codon (N842D) has been reported in the Human Gene Mutation Database in association with a CDK13-related disorder (Stenson et al., 2014), supporting the functional importance of this residue of the protein. We interpret N842S as a pathogenic variant.
Ambry Genetics RCV000622786 SCV000742245 pathogenic Inborn genetic diseases 2017-03-15 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000498452 SCV000920567 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000850464 SCV000992662 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000498452 SCV001250331 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000417211 SCV001439317 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2020-07-22 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526523 SCV001736945 pathogenic Global developmental delay criteria provided, single submitter clinical testing
OMIM RCV000417211 SCV000503042 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2018-02-02 no assertion criteria provided literature only
GeneReviews RCV000417211 SCV001370887 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2019-01-31 no assertion criteria provided literature only
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000417211 SCV001442986 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2020-06-10 no assertion criteria provided clinical testing
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000417211 SCV001450704 pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2020-09-03 no assertion criteria provided clinical testing

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