ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala)

dbSNP: rs761631834
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328620 SCV001519777 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2019-10-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002395731 SCV002700254 uncertain significance Cardiovascular phenotype 2020-06-30 criteria provided, single submitter clinical testing The p.P3459A variant (also known as c.10375C>G), located in coding exon 38 of the ANK2 gene, results from a C to G substitution at nucleotide position 10375. This exon is expressed solely in brain (Mohler PJ et al. Circulation. 2007;115(4):432-41). The proline at codon 3459 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001328620 SCV002783281 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-09-13 criteria provided, single submitter 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.