ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)

dbSNP: rs536148030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192736 SCV000248765 uncertain significance not specified 2014-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000706064 SCV000835095 uncertain significance RYR1-related disorder 2022-10-18 criteria provided, single submitter clinical testing This sequence change affects codon 4882 of the RYR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR1 protein. This variant also falls at the last nucleotide of exon 101, which is part of the consensus splice site for this exon. This variant is present in population databases (rs536148030, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212095). 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 may create or strengthen a 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.
Fulgent Genetics, Fulgent Genetics RCV002485290 SCV002790437 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2022-04-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996907 SCV004817298 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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