ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13574C>A (p.Ser4525Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004009798 SCV004817382 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-03-07 criteria provided, single submitter clinical testing This missense variant replaces serine with tyrosine at codon 4525 of the RYR2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 RYR2-related 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.

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