ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6078_6079del (p.Gly2027fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004802438 SCV005426785 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-05-14 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 40 of the RYR2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function RYR2 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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