ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8816_8817AT[1] (p.Ile2940fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773012 SCV000906394 uncertain significance Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant deletes two nucleotides in exon 60 of the RYR2 gene, causing a frameshift and premature translational stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor this variant has been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Disease-causing variants in RYR2 are mostly missense variants. The clinical significance of RYR2 truncation variants that can cause heterozygous loss of function is not clearly established for cardiovascular disorders. Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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