ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6548G>C (p.Gly2183Ala) (rs959170123)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533838 SCV000659997 uncertain significance RYR1-Related Disorders 2016-12-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 2183 of the RYR1 protein (p.Gly2183Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. It also falls at the last nucleotide of exon 39 of the RYR1 coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RYR1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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