ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)

dbSNP: rs193922787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224799 SCV003920892 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2021-03-30 criteria provided, single submitter clinical testing RYR1 NM_000540.2 exon 36 p.Arg1996= (c.5988C>T): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar, but without additional information (Variation ID:133154). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, computational tools designed to predict splicing suggest that this variant may generate an alternate 5' splice site at this location. However, further studies are needed to understand its impact. Of note, this variant is a silent variant and does not change the amino acid. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119645 SCV000154552 not provided not provided no assertion provided not provided

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