ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6469del (p.Glu2157fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003756959 SCV004532776 pathogenic RYR1-related disorder 2022-12-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2157Serfs*22) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 20839240, 23919265, 28818389).
All of Us Research Program, National Institutes of Health RCV004005879 SCV004827009 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-05-04 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV004556877 SCV005045726 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2021-07-19 criteria provided, single submitter clinical testing

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