ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys)

gnomAD frequency: 0.00001  dbSNP: rs745920741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799822 SCV000939504 uncertain significance RYR1-related disorder 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1301 of the RYR1 protein (p.Arg1301Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs745920741, 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 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 RCV002477829 SCV002782470 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 2021-08-03 criteria provided, single submitter clinical testing

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