ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)

gnomAD frequency: 0.00001  dbSNP: rs1350377647
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678945 SCV000805158 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2018-03-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998278 SCV001154252 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360706 SCV002662884 likely benign Cardiovascular phenotype 2020-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002532183 SCV003492840 uncertain significance Long QT syndrome 2021-12-30 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 560700). This missense change has been observed in individual(s) with clinical features of long-QT syndrome (PMID: 31737537). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2292 of the ANK2 protein (p.Arg2292Gln).

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.