ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3379C>T (p.Arg1127Cys) (rs753701890)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000328863 SCV000412035 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381044 SCV000412036 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288904 SCV000412037 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322995 SCV000412038 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585370 SCV000692959 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000699439 SCV000828151 uncertain significance RYR1-Related Disorders 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1127 of the RYR1 protein (p.Arg1127Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs753701890, ExAC 0.06%). This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 329009). Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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