ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12840C>A (p.Val4280=)

dbSNP: rs1695393350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179674 SCV001344384 likely benign Cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006590 SCV004818672 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-05-16 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This synonymous variant does not change the amino acid sequence of the RYR2 protein. However, computational splicing tools suggest that this variant may disrupt RNA splicing. To our knowledge, RNA studies have not been performed to investigate this prediction. This variant has not 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 in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.

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