ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1906C>A (p.Leu636Ile)

dbSNP: rs2150421908
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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 RCV002657639 SCV002287326 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 636 of the RYR2 protein (p.Leu636Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. 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. 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 expected to disrupt RYR2 protein function.

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