ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2907T>C (p.Asn969=)

gnomAD frequency: 0.00001  dbSNP: rs763800107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563134 SCV001400629 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 955569). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This variant is present in population databases (rs763800107, gnomAD 0.007%). This sequence change affects codon 969 of the RYR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR2 protein. It affects a nucleotide within the consensus splice site.
GeneDx RCV001673039 SCV001883580 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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