ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2594T>A (p.Ile865Asn)

dbSNP: rs2150494586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002573424 SCV002261674 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-01-05 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR2 protein function. This variant has not been reported in the literature in individuals with RYR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 865 of the RYR2 protein (p.Ile865Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.

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