ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6295_6351dup (p.Ser2099_Val2117dup) (rs1555781547)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555436 SCV000659987 uncertain significance RYR1-Related Disorders 2017-05-25 criteria provided, single submitter clinical testing This sequence change inserts 57 nucleotides in exon 39 of the RYR1 mRNA (c.6295_6351dup). This leads to the duplication of 19 amino acid residues in the RYR1 protein (p.Ser2099_Val2117dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals a with a RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted amino acids is currently unknown. In summary, this is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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