ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln)

gnomAD frequency: 0.00001  dbSNP: rs1912187896
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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 RCV001363035 SCV001559117 uncertain significance RYR1-related disorder 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 4681 of the RYR1 protein (p.Lys4681Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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 RCV002476653 SCV002780837 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 2021-11-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803660 SCV005426507 uncertain significance Malignant hyperthermia, susceptibility to, 1 2024-08-06 criteria provided, single submitter clinical testing

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