ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys)

gnomAD frequency: 0.00001  dbSNP: rs751654689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558376 SCV000660019 uncertain significance RYR1-related disorder 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2398 of the RYR1 protein (p.Arg2398Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 478270). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV002476209 SCV002788844 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 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129926 SCV003814413 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing

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