ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1418G>A (p.Arg473His)

gnomAD frequency: 0.00001  dbSNP: rs538087438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481577 SCV000573706 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing The R473H variant in the RYR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R473H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R473H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. We interpret R473H as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002475954 SCV002793308 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 2021-11-04 criteria provided, single submitter clinical testing

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