ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1411C>A (p.Arg471Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004775863 SCV005386991 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33767344)
All of Us Research Program, National Institutes of Health RCV004805674 SCV005430486 uncertain significance Malignant hyperthermia, susceptibility to, 1 2024-08-06 criteria provided, single submitter clinical testing

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