ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)

dbSNP: rs886041791
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000389598 SCV000330550 pathogenic not provided 2021-01-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense 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: 32124548, 31191201)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000455520 SCV000540910 likely pathogenic KBG syndrome 2017-03-09 criteria provided, single submitter research
Ambry Genetics RCV000622829 SCV000742139 pathogenic Inborn genetic diseases 2017-01-12 criteria provided, single submitter clinical testing
Laboratoire Génétique Moléculaire, CHRU TOURS RCV000389598 SCV001760751 pathogenic not provided 2019-01-14 criteria provided, single submitter clinical testing
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV000455520 SCV002097369 pathogenic KBG syndrome 2021-11-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000389598 SCV003917860 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000455520 SCV004101374 pathogenic KBG syndrome 2023-05-26 criteria provided, single submitter clinical testing The ANKRD11 c.2197C>T (p.Arg733Ter) nonsense variant is predicted to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a de novo state in the literature in individuals with KBG syndrome (PMID: 31191201, 32124548, 34971082, 35682590). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.2197C>T (p.Arg733Ter) variant is classified as pathogenic for KBG syndrome.

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.