ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10839-8C>T

dbSNP: rs2149159271
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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 RCV001524157 SCV001733933 likely benign Cardiomyopathy 2020-12-08 criteria provided, single submitter clinical testing
Invitae RCV002568056 SCV003346532 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-01 criteria provided, single submitter clinical testing This sequence change falls in intron 76 of the RYR2 gene. It does not directly change the encoded amino acid sequence of the RYR2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1171211). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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