ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)

gnomAD frequency: 0.00001  dbSNP: rs374070555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050870 SCV001214999 uncertain significance RYR1-Related Disorders 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 5030 of the RYR1 protein (p.Arg5030Cys). This variant is present in population databases (rs374070555, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 291314). 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 expected to disrupt RYR1 protein function. 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.
Revvity Omics, Revvity RCV003133210 SCV003812537 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV002051700 SCV000346045 uncertain significance Malignant hyperthermia of anesthesia no assertion criteria provided clinical testing

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