ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13265_13267AGG[2] (p.Glu4424del) (rs930978242)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536825 SCV000659811 uncertain significance RYR1-Related Disorders 2018-04-06 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 91 of the RYR1 mRNA (c.13271_13273delAGG). This leads to the deletion of 1 amino acid residue in the RYR1 protein (p.Glu4424del) 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 with an RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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