ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.271A>G (p.Ile91Val)

dbSNP: rs773244166
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
Ambry Genetics RCV002437465 SCV002745058 uncertain significance Cardiovascular phenotype 2019-05-13 criteria provided, single submitter clinical testing The p.I91V variant (also known as c.271A>G), located in coding exon 3 of the ANKRD1 gene, results from an A to G substitution at nucleotide position 271. The isoleucine at codon 91 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.