ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4751dup (p.Arg1585fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005125532 SCV005751732 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1585Alafs*29) in the RYR2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RYR2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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