ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp)

gnomAD frequency: 0.00008  dbSNP: rs148923077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039239 SCV001202759 uncertain significance RYR1-related disorder 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 4115 of the RYR1 protein (p.Glu4115Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs148923077, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002489559 SCV002784082 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 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132151 SCV003814369 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing

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