ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12810_12818del (p.4271_4273GAE[1]) (rs759582696)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551747 SCV000659795 uncertain significance RYR1-Related Disorders 2017-04-17 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 91 of the RYR1 mRNA (c.12810_12818delGGGCGCGGA). This leads to the deletion of 3 amino acid residues in the RYR1 protein (p.Gly4274_Glu4276del) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs759582696) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a 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. In summary, this 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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