ClinVar Miner

Submissions for variant NM_052988.5(CDK10):c.870_871del (p.Trp291fs)

gnomAD frequency: 0.00011  dbSNP: rs766960979
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526542 SCV001736967 pathogenic Al Kaissi syndrome criteria provided, single submitter clinical testing
GeneDx RCV001658236 SCV001874055 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect by affecting the cytoskeleton resulting in fewer and shorter cilia (PMID: 29130579); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29130579, 34369103)
Ambry Genetics RCV002568129 SCV003690981 likely pathogenic Inborn genetic diseases 2022-09-05 criteria provided, single submitter clinical testing The c.870_871delAT (p.W291Afs*18) alteration, located in exon 11 (coding exon 11) of the CDK10 gene, consists of a deletion of 2 nucleotides from position 870 to 871, causing a translational frameshift with a predicted alternate stop codon after 18 amino acids. This alteration occurs at the 3' terminus of the CDK10 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 19% of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). This alteration was detected in the homozygous state in one Ashkenazi Jewish individual with Al Kaissi syndrome (Guen, 2018). Functional assays suggest that patient cells have impaired primary cilia morphology and ciliogenesis (Guen, 2018). Based on the available evidence, this alteration is classified as likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.