ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11515C>T (p.Leu3839Phe) (rs1064796484)

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
GeneDx RCV000481384 SCV000573256 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The L3839F variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts(Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although the L3839F variant is aconservative amino acid substitution, this substitution occurs at a position that is conserved across species. Inaddition, L3839F is located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenicmissense variants occur (Medeiros-Domingo et al., 2009), and in silico analysis predicts this variant is probablydamaging to the protein structure/function. Nonetheless, this variant lacks observation in a significant number ofaffected individuals, segregation data, and functional evidence, all of which would further clarify pathogenicity.

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.