ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) (rs869025514)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208101 SCV000264192 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-07-27 criteria provided, single submitter clinical testing
Color RCV000771881 SCV000904638 uncertain significance Cardiomyopathy 2018-07-09 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant missense is located in the C-terminal pore-forming region of the RYR1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has the variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 1/245406 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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