ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2323G>A (p.Val775Ile)

gnomAD frequency: 0.00001  dbSNP: rs747893832
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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 RCV002548066 SCV002134284 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-06-16 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. This sequence change replaces valine with isoleucine at codon 775 of the RYR2 protein (p.Val775Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs747893832, ExAC 0.01%). This variant has not been reported in the literature in individuals with RYR2-related conditions. 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.

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