ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG

dbSNP: rs1555786205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592087 SCV000701384 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497244 SCV002815992 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-07-28 criteria provided, single submitter clinical testing
Invitae RCV002530963 SCV003458043 likely pathogenic RYR1-related disorder 2023-10-18 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 58 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: 23919265, 25960145, 28818389, 30611313). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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.

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