ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) (rs371560909)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127841 SCV000171423 benign not specified 2014-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000127841 SCV000270815 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala2387Ala in exon 47 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (10/3510) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics,PreventionGenetics RCV000127841 SCV000306071 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000241725 SCV000320343 likely benign Cardiovascular phenotype 2015-10-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000467570 SCV000554624 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127841 SCV000702986 likely benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000127841 SCV000918179 benign not specified 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The c.7161G>A (p.Ala2387=) in RYR2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect the normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control dataset of gnomAD at a frequency of 0.0004 (113/276636 chrs tested). These frequencies exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.00003). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Benign/Likely Benign by multiple reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Color RCV001177594 SCV001341831 benign Cardiomyopathy 2019-01-31 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.