ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1])

dbSNP: rs193922846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655515 SCV000777446 uncertain significance RYR1-related disorder 2022-10-28 criteria provided, single submitter clinical testing This variant, c.12960_12968del, results in the deletion of 3 amino acid(s) of the RYR1 protein (p.Arg4321_Leu4323del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has been observed in individual(s) with nemaline myopathy by muscle biopsy (Invitae). ClinVar contains an entry for this variant (Variation ID: 544390). 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.
PreventionGenetics, part of Exact Sciences RCV000721300 SCV000852327 uncertain significance not provided 2015-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507137 SCV002814484 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 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721300 SCV003814361 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000721300 SCV005439328 uncertain significance not provided 2024-06-20 criteria provided, single submitter clinical testing Identified in a patient with dilated cardiomyopathy in the published literature and reported as a variant of uncertain significance (PMID: 32969603); In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis indicates that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32969603)

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