ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10271_10279del (p.Leu3424_Glu3426del) (rs775358319)

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
Invitae RCV000546793 SCV000659746 uncertain significance RYR1-Related Disorders 2018-12-04 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 68 of the RYR1 mRNA (c.10271_10279delTGACGGAGC). This leads to the deletion of 3 amino acid residue(s) in the RYR1 protein (p.Leu3424_Glu3426del) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs775358319) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of 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.