ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)

dbSNP: rs776621043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes RCV002260461 SCV002540082 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2022-06-01 criteria provided, single submitter curation
Dept of Medical Biology, Uskudar University RCV003318410 SCV004021974 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP2
All of Us Research Program, National Institutes of Health RCV004005570 SCV004817923 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 2683 of the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 1/245746 chromosomes 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.

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