ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del)

dbSNP: rs938670458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233458 SCV001406054 uncertain significance RYR1-related disorder 2022-09-06 criteria provided, single submitter clinical testing This variant, c.12803_12817del, results in the deletion of 5 amino acid(s) of the RYR1 protein (p.Ala4268_Ala4272del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.06%). 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: 960011). 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 RCV002480763 SCV002786818 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 2021-10-27 criteria provided, single submitter clinical testing

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