ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys)

gnomAD frequency: 0.00001  dbSNP: rs1470709043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335720 SCV001528948 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2018-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035795 SCV005016682 uncertain significance Cardiovascular phenotype 2023-10-23 criteria provided, single submitter clinical testing The p.G487C variant (also known as c.1459G>T), located in coding exon 14 of the ANK2 gene, results from a G to T substitution at nucleotide position 1459. The glycine at codon 487 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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.