ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.485_489dup (p.Pro164fs)

dbSNP: rs1553426652
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
Ambry Genetics RCV000618745 SCV000737805 uncertain significance Cardiovascular phenotype 2016-11-17 criteria provided, single submitter clinical testing The c.485_489dupTACAC variant, located in coding exon 8 of the RYR2 gene, results from a duplication of TACAC at nucleotide position 485, causing a translational frameshift with a predicted alternate stop codon (p.P164Yfs*22). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6081 samples (12162 alleles) with coverage at this position. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of RYR2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.