ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)

gnomAD frequency: 0.00010  dbSNP: rs138593495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000210015 SCV000265742 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
GeneDx RCV000521020 SCV000618052 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing Reported previously by whole exome sequencing as a germline variant in a female with lung adenocarcinoma before the age of 45; however, variants in other genes were also identified (Donner et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23069638, 30032850)
Labcorp Genetics (formerly Invitae), Labcorp RCV000547789 SCV000659772 likely benign RYR1-related disorder 2024-02-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626705 SCV000747408 uncertain significance Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764195 SCV000895198 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 2018-10-31 criteria provided, single submitter clinical testing

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