ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2287G>A (p.Val763Met)

dbSNP: rs369947687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721445 SCV000852515 uncertain significance not provided 2015-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493286 SCV002785866 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 2021-09-12 criteria provided, single submitter clinical testing
Invitae RCV002533063 SCV003298940 uncertain significance RYR1-related disorder 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 763 of the RYR1 protein (p.Val763Met). This variant is present in population databases (rs369947687, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of autosomal recessive RYR1-related conditions (PMID: 25635128, 27363342, 29629541). ClinVar contains an entry for this variant (Variation ID: 590499). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000721445 SCV004034725 likely pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25635128, 29629541, 27363342)

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