ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.294+1del

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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 RCV004805414 SCV005426571 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-05-14 criteria provided, single submitter clinical testing This variant deletes one of the three "G" nucleotides at the junction of exon 4 and intron 4 of the RYR2 gene. Splice prediction tools suggest that this variant may not impact RNA splicing. This variant is expected to create a frameshift and premature translation stop signal, resulting in an absent or non-functional protein product. To our knowledge, functional RNA studies have not been reported for this variant. 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). The role of loss-of-function RYR2 truncation and splice 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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