ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)

gnomAD frequency: 0.00001  dbSNP: rs759566652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721584 SCV000852677 uncertain significance not provided 2013-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001300607 SCV001489753 uncertain significance RYR1-related disorder 2022-07-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs759566652, gnomAD 0.004%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR1 protein function. ClinVar contains an entry for this variant (Variation ID: 590555). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1759 of the RYR1 protein (p.Arg1759Trp).
Revvity Omics, Revvity RCV000721584 SCV003814351 uncertain significance not provided 2019-03-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999852 SCV004836114 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-12-01 criteria provided, single submitter clinical testing

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