ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)

gnomAD frequency: 0.00006  dbSNP: rs770942162
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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 RCV001057839 SCV001222354 uncertain significance RYR1-related disorder 2021-09-17 criteria provided, single submitter clinical testing This sequence change affects codon 3158 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 (rs770942162, ExAC 0.005%). This variant has not been reported in the literature in individuals with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 853097). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV002482022 SCV002800919 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 2021-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000093 SCV004817252 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-11-02 criteria provided, single submitter clinical testing This variant is located in the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has been identified in 11/277182 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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