ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) (rs867851900)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721315 SCV000341059 uncertain significance not provided 2016-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388448 SCV000412955 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296266 SCV000412956 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344212 SCV000412957 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400884 SCV000412958 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549654 SCV000659815 uncertain significance RYR1-Related Disorders 2017-07-17 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 4457 of the RYR1 protein (p.Met4457Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 287319). This sequence change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090). 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.
PreventionGenetics,PreventionGenetics RCV000721315 SCV000852346 uncertain significance not provided 2012-07-17 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.