ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)

dbSNP: rs1553322892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000622354 SCV000740449 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003103814 SCV001232041 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2020-01-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 4173 of the RYR2 protein (p.Ile4173Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 520468). This variant is not present in population databases (ExAC no frequency).

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