ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2594A>G (p.His865Arg)

dbSNP: rs371862065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721462 SCV000852532 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999834 SCV004820481 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-03-23 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 865 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with a suspected malignant hyperthermia event (PMID: 31559918). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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