ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3])

dbSNP: rs746833347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721289 SCV000852313 uncertain significance not provided 2016-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001370650 SCV001567172 uncertain significance RYR1-related disorder 2022-09-23 criteria provided, single submitter clinical testing This variant, c.12785_12790dup, results in the insertion of 2 amino acid(s) of the RYR1 protein (p.Asp4262_Glu4263dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771046701, gnomAD 0.05%). 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: 590414). 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.
GeneDx RCV000721289 SCV001823880 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002499322 SCV002781508 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 2021-10-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721289 SCV003815017 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing

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