ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6])

dbSNP: rs751816707
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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 RCV001034937 SCV001198240 uncertain significance RYR1-related disorder 2022-03-09 criteria provided, single submitter clinical testing This variant, c.13473_13478dup, results in the insertion of 2 amino acid(s) of the RYR1 protein (p.Pro4497_Glu4498dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs751816707, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 834286). 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 RCV002479232 SCV002804017 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 2021-11-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004684 SCV004829839 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-08 criteria provided, single submitter clinical testing This variant causes the in-frame insertion of two amino acids in the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has been identified in 2/235210 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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