ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.334C>T (p.His112Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340842 SCV004047611 uncertain significance Central core myopathy criteria provided, single submitter clinical testing The missense variant in c.334C>T in RYR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His112Tyr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid change p.His112Tyr in RYR1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid His at position 112 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).
All of Us Research Program, National Institutes of Health RCV004011268 SCV004830365 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-06-28 criteria provided, single submitter clinical testing

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