ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7215-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1190472871
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
Neuberg Centre For Genomic Medicine, NCGM RCV001823496 SCV002072974 uncertain significance Central core myopathy criteria provided, single submitter clinical testing The splice region variant c.7215-3C>T in RYR1 (NM_000540.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7215-3C>T variant is observed in 1/21,632 (0.0046%) alleles from individuals of Finnish background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The c.7215-3C>T variant is not predicted to disrupt splicing by any splice site algorithm. The c.7215-3C>T variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Uncertain Significance.

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.