ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14363A>G (p.Asn4788Ser) (rs200002533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531468 SCV000659845 uncertain significance RYR1-Related Disorders 2017-09-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 4788 of the RYR1 protein (p.Asn4788Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs200002533, ExAC 0.01%). This variant has not been reported in the literature in individuals with RYR1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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