ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.46-10G>A

gnomAD frequency: 0.00001  dbSNP: rs1972632890
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972103 SCV002209378 uncertain significance RYR1-related disorder 2021-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the RYR1 gene. It does not directly change the encoded amino acid sequence of the RYR1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
All of Us Research Program, National Institutes of Health RCV004010941 SCV004824877 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-10-30 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the -10 position of intron 1 of the RYR1 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. 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 not been identified 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.
Athena Diagnostics RCV004999556 SCV005620607 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV004770294 SCV005091420 likely pathogenic King Denborough syndrome 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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