ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11329A>G (p.Met3777Val)

gnomAD frequency: 0.00001  dbSNP: rs767480684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053766 SCV001218043 uncertain significance RYR1-Related Disorders 2023-10-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3777 of the RYR1 protein (p.Met3777Val). This variant is present in population databases (rs767480684, 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: 849740). 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.

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