ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10681C>T (p.Leu3561Phe)

dbSNP: rs1022428392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525707 SCV001735887 uncertain significance Cardiomyopathy 2022-08-29 criteria provided, single submitter clinical testing This missense variant replaces leucine with phenylalanine at codon 3561 of the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004008867 SCV004815897 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces leucine with phenylalanine at codon 3561 of the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051908 SCV005685439 uncertain significance Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2024-11-19 criteria provided, single submitter clinical testing The RYR2 c.10681C>T (p.Leu3561Phe) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to RYR2 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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