ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.5963T>C (p.Met1988Thr)

dbSNP: rs2154021231
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
New York Genome Center RCV001837212 SCV002097701 uncertain significance Neurodevelopmental disorder 2021-01-21 criteria provided, single submitter clinical testing The inherited heterozygous c.5963T>C (p.Met1988Thr) variant identified in the ANK2 gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD(V3) database indicating it is an extremelyrare variant in the populations represented in that database. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Giventhe lack of compelling evidence for its pathogenicity, the inheritedc.5963T>C (p.Met1988Thr) variant identified in the ANK2 gene is reported here as a variant of uncertain significance.
GeneDx RCV003163979 SCV003914878 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing Reported in an individual with arrhythmogenic right ventricular cardiomyopathy in published literature (Roberts et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31264976)

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.