ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12429G>A (p.Ala4143=) (rs112288982)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556836 SCV000659787 uncertain significance RYR1-Related Disorders 2017-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 4143 of the RYR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an RYR1-related disease. 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, this variant has uncertain impact on RYR1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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