ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1053A>G (p.Thr351=) (rs187565743)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620484 SCV000736472 benign Cardiovascular phenotype 2016-05-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769771 SCV000901194 benign Cardiomyopathy 2015-11-04 criteria provided, single submitter clinical testing
Color RCV000769771 SCV000903001 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000155810 SCV000171400 benign not specified 2014-03-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000406623 SCV000356209 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303275 SCV000356210 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586111 SCV000697601 benign not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.1053A>G (p.Thr351Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of sRp55. However, these predictions have yet to be confirmed by functional studies. This variant was found in 157/120700 control chromosomes (1 homozygote), predominantly observed in the East Asian subpopulation at a frequency of 0.018118 (156/8610). This frequency is about 725 times the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000303275 SCV000554610 benign Catecholaminergic polymorphic ventricular tachycardia 2017-11-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155810 SCV000205521 benign not specified 2014-03-19 criteria provided, single submitter clinical testing Thr351Thr in exon 13 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 3.0% (6/200) of Han Chinese chromosomes from a broad population by the 1000 Genomes Project (http:// www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs187565743).

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.