ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.15098A>G (p.Tyr5033Cys) (rs201765762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000209959 SCV000265754 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Invitae RCV000655588 SCV000777519 uncertain significance RYR1-Related Disorders 2018-01-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 5033 of the RYR1 protein (p.Tyr5033Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 224409). 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.

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