ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro)

dbSNP: rs1555772266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559828 SCV000659893 uncertain significance RYR1-related disorder 2018-05-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RYR1-related disease. This sequence change replaces leucine with proline at codon 873 of the RYR1 protein (p.Leu873Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002491118 SCV002777581 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 2021-09-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999494 SCV004825044 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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