ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile)

dbSNP: rs1568575693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721270 SCV000852293 uncertain significance not provided 2018-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001322436 SCV001513307 uncertain significance RYR1-related disorder 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with isoleucine, which is neutral and non-polar, at codon 4117 of the RYR1 protein (p.Asp4117Ile). This variant is present in population databases (no rsID available, gnomAD 0.3%). 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: 590401). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV002499321 SCV002816854 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 2021-10-12 criteria provided, single submitter clinical testing

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