ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) (rs772229371)

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
GeneDx RCV000317010 SCV000330108 pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing The R601X pathogenic variant in the ANKRD11 gene has been reported previously as a de-novo finding in an individual with submucous cleft hard palate, learning disability, abnormality of the lip, microcephaly, mild conductive hearing impairment, bifid uvula, and widely-spaced maxillary central incisors (Fitzgerald et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R601X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R601X as a pathogenic variant.

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.