ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9709_9711GAG[1] (p.Glu3238del) (rs780480139)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655570 SCV000777501 uncertain significance RYR1-Related Disorders 2018-03-27 criteria provided, single submitter clinical testing This variant, c.9712_9714delGAG, results in the deletion of 1 amino acid of the RYR1 protein (p.Glu3238del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780480139, ExAC 0.002%). This variant has not been reported in the literature in individuals with RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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