ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)

dbSNP: rs1247927726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261669 SCV002541782 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095888 SCV003505666 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-06-10 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2276 of the RYR2 protein (p.Ser2276Ile).

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