ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1476+3C>T

gnomAD frequency: 0.00002  dbSNP: rs1387762631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712617 SCV000715350 likely benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Invitae RCV002531163 SCV000955163 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-11 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the RYR2 gene. It does not directly change the encoded amino acid sequence of the RYR2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 506979). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001186307 SCV001352690 likely benign Cardiomyopathy 2018-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395553 SCV002700690 uncertain significance Cardiovascular phenotype 2021-09-22 criteria provided, single submitter clinical testing The c.1476+3C>T intronic variant results from a C to T substitution 3 nucleotides after coding exon 15 in the RYR2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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