ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1])

dbSNP: rs746833347
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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 RCV000690367 SCV000818049 uncertain significance RYR1-related disorder 2022-10-08 criteria provided, single submitter clinical testing This variant, c.12785_12790del, results in the deletion of 2 amino acid(s) of the RYR1 protein (p.Asp4262_Glu4263del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746833347, gnomAD 0.04%). 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: 569674). 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 RCV002485637 SCV002790296 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 2021-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000690367 SCV004715241 uncertain significance RYR1-related disorder 2024-02-14 criteria provided, single submitter clinical testing The RYR1 c.12785_12790del6 variant is predicted to result in an in-frame deletion (p.Asp4262_Glu4263del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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