ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003986043 SCV004801883 likely pathogenic KBG syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Ile721AsnfsTer21 in the ANKRD11 gene. The variant was observed in heterozygous state in an individual affected with syndromic intellectual deficiency and focal epilepsy. Loss-of-function variants are reported in patients with KBG syndrome, 148050. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been 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.