ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2320G>A (p.Gly774Arg) (rs147918857)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000590914 SCV000700138 uncertain significance Malignant hyperthermia 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of malignant hyperthermia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Invitae RCV000818848 SCV000959482 uncertain significance RYR1-Related Disorders 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 774 of the RYR1 protein (p.Gly774Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs147918857, ExAC 0.05%). This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 496666). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
PreventionGenetics RCV000721448 SCV000852518 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing

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