ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) (rs587784373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147415 SCV000194810 likely pathogenic not provided 2014-06-26 criteria provided, single submitter clinical testing
Invitae RCV000527572 SCV000659856 uncertain significance RYR1-Related Disorders 2017-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 4867 of the RYR1 protein (p.Ser4867Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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: 159837). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090). 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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