ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9356G>A (p.Arg3119His) (rs193922833)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119769 SCV000617751 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR1 gene. The R3119H variant been reported previously in an individual with a diagnosis of malignant hyperthermia, elevated CK and cores on muscle biopsy; however, this individual also harbored another RYR1 variant (Ibara et al., 2006). The R3119H variant is observed in 3/8640 (0.04%) alleles from individuals of East Asian background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R3119H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Leiden Muscular Dystrophy (RYR1) RCV000119769 SCV000154676 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119769 SCV000852868 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000505821 SCV000600012 uncertain significance Myopathy, Central Core 2017-07-22 criteria provided, single submitter clinical testing

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