ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])

dbSNP: rs1036726331
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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 RCV001876382 SCV002125734 uncertain significance RYR1-related disorder 2022-02-05 criteria provided, single submitter clinical testing This variant, c.13032_13040dup, results in the insertion of 3 amino acid(s) of the RYR1 protein (p.Ala4346_Ala4348dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002482461 SCV002792746 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 2021-10-18 criteria provided, single submitter clinical testing

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