ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.726A>G (p.Arg242=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810028 SCV000950214 uncertain significance RYR1-Related Disorders 2018-12-04 criteria provided, single submitter clinical testing This sequence change affects codon 242 of the RYR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR1 protein. This variant is present in population databases (rs781385158, ExAC 0.01%). This variant has not been reported in the literature in individuals with RYR1-related conditions. 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.

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