ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)

dbSNP: rs1364690005
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579355 SCV000680950 pathogenic not provided 2023-04-21 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27605097, 33955014, 31607427)
Institute for Human Genetics, University Hospital Essen RCV001376681 SCV001478040 pathogenic Global developmental delay 2021-01-22 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001261256 SCV002540227 pathogenic KBG syndrome 2022-01-14 criteria provided, single submitter clinical testing The ANKRD11 c.4087C>T (p.Arg1363Ter) nonsense variant results in the substitution of arginine at amino acid position 1363 with a stop codon. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant has been reported in a heterozygous state in a total of three individuals with KBG syndrome. The variant occurred de novo in two of the affected individuals, and was inherited from an unaffected father in the third individual (Goldenberg et al. 2016; Aiken et al. 2019; Parenti et al. 2021). The c.4087C>T variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.4087C>T (p.Arg1363Ter) variant is classified as pathogenic for KBG syndrome.
MGZ Medical Genetics Center RCV001261256 SCV002580674 pathogenic KBG syndrome 2022-02-03 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV001261256 SCV001438095 pathogenic KBG syndrome 2018-07-06 no assertion criteria provided clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001261256 SCV004806137 uncertain significance KBG syndrome 2024-03-25 flagged submission clinical testing

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.