ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9580+2T>C

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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 RCV004802500 SCV005428020 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-05-14 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +2 position of intron 67 of the RYR2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. 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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