ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4208_4209insTGTAATCTGC (p.Arg1404fs)

dbSNP: rs1553515441
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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 RCV002529928 SCV000760661 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2017-12-04 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease. This variant has not been reported in the literature in individuals with RYR2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1404Valfs*12) in the RYR2 gene. It is expected to result in an absent or disrupted protein product.

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