ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5548-3T>C

gnomAD frequency: 0.00001  dbSNP: rs370111319
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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 RCV000655657 SCV000777588 uncertain significance RYR1-related disorder 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 34 of the RYR1 gene. It does not directly change the encoded amino acid sequence of the RYR1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs370111319, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Revvity Omics, Revvity RCV003133482 SCV003814388 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004165 SCV004818747 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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