ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7116-2A>G

dbSNP: rs2148738146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002563448 SCV002223516 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-04-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RYR2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 46 of the RYR2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease.

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