ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)

gnomAD frequency: 0.00001  dbSNP: rs1309242606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002535495 SCV000959721 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181917 SCV001347162 uncertain significance Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces isoleucine with valine at codon 502 of the RYR2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/276384 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.
Ambry Genetics RCV002390682 SCV002702393 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The p.I502V variant (also known as c.1504A>G), located in coding exon 16 of the RYR2 gene, results from an A to G substitution at nucleotide position 1504. The isoleucine at codon 502 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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