ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14647-3_14647del

dbSNP: rs1568611362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258134 SCV001435022 uncertain significance Malignant hyperthermia, susceptibility to, 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120513 SCV003788189 likely pathogenic RYR1-related disorder 2022-02-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 979089). This variant has been observed in individual(s) with autosomal recessive RYR1-related conditions (PMID: 31407473). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant results in the deletion of part of exon 102 (c.14647-3_14647del) of the RYR1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 20839240, 23919265, 28818389).

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