ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)

gnomAD frequency: 0.00013  dbSNP: rs151239950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364857 SCV000412817 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391757 SCV000412818 likely benign Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306797 SCV000412819 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363542 SCV000412820 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050295 SCV001214394 uncertain significance RYR1-related disorder 2024-08-08 criteria provided, single submitter clinical testing This sequence change affects codon 3839 of the RYR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs151239950, gnomAD 0.07%). 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: 329109). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV003514351 SCV004358196 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing

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