ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys) (rs553445235)

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
Integrated Genetics/Laboratory Corporation of America RCV000780691 SCV000918163 uncertain significance not specified 2018-04-09 criteria provided, single submitter clinical testing Variant summary: RYR2 c.9874G>A (p.Glu3292Lys) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2/67454 control chromosomes in the ExAC database. The observed variant frequency is approximately 1.19 fold above the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Cardiomyopathy phenotype (2.5e-05); however, with so few occurrences in the general population, this data must be interpreted with caution. To our knowledge, no occurrence of c.9874G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance until additional information becomes available.

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.