ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2654G>A (p.Arg885His) (rs370634440)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195228 SCV000248770 likely pathogenic Muscular Diseases 2015-06-18 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662096 SCV000784436 uncertain significance Minicore myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662097 SCV000784437 uncertain significance Congenital myopathy with fiber type disproportion 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662098 SCV000784438 uncertain significance Myopathy, RYR1-associated 2018-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391459 SCV000411942 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307765 SCV000411943 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362347 SCV000411944 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267639 SCV000411945 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655553 SCV000777484 uncertain significance RYR1-Related Disorders 2018-03-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 885 of the RYR1 protein (p.Arg885His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs370634440, ExAC 0.04%). This variant has been reported in an individual affected with central core disease (PMID: 25960145). ClinVar contains an entry for this variant (Variation ID: 212100). 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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