ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12779_12784ACGAGG[1] (p.4260_4261DE[1]) (rs746833347)

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 RCV000690367 SCV000818049 uncertain significance RYR1-Related Disorders 2018-07-05 criteria provided, single submitter clinical testing This variant, c.12785_12790delACGAGG, results in the deletion of 2 amino acid(s) of the RYR1 protein (p.Asp4262_Glu4263del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746833347, ExAC 0.04%). This variant has been observed in an individual affected with Limb-Girdle Muscular Dystrophy or LGMD (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This missense change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090). These observations suggest that a previously unreported missense substitution within this region may affect protein function, but experiments have not been done to test this possibility. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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.