ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.5047C>A (p.Pro1683Thr)

dbSNP: rs756720499
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001038923 SCV001202424 uncertain significance Long QT syndrome 2019-02-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs756720499, ExAC 0.002%). This sequence change replaces proline with threonine at codon 1683 of the ANK2 protein (p.Pro1683Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals with ANK2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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.