ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)

dbSNP: rs1176364208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262990 SCV001441056 uncertain significance Central core myopathy 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001324242 SCV001515188 uncertain significance RYR1-related disorder 2024-02-24 criteria provided, single submitter clinical testing This variant, c.12568_12576del, results in the deletion of 3 amino acid(s) of the RYR1 protein (p.Glu4190_Ile4192del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of RYR1-related conditions (PMID: 29382405). ClinVar contains an entry for this variant (Variation ID: 983125). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001751530 SCV001988419 uncertain significance not provided 2020-10-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in an individual with adult-onset proximal weakness, scoliosis, and contractures who also harbored a second RYR1 variant, although phase was unknown (Wu et al., 2018); This variant is associated with the following publications: (PMID: 29382405)
Revvity Omics, Revvity RCV001751530 SCV003815005 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing

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.