ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val)

gnomAD frequency: 0.00002  dbSNP: rs757228479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686961 SCV000814505 uncertain significance RYR1-related disorder 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2633 of the RYR1 protein (p.Leu2633Val). This variant is present in population databases (rs757228479, gnomAD 0.01%). 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: 567003). 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.
Fulgent Genetics, Fulgent Genetics RCV002507192 SCV002816966 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004256 SCV004826999 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-04-27 criteria provided, single submitter clinical testing

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