ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10255T>C (p.Phe3419Leu)

dbSNP: rs1405655091
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050272 SCV001214371 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 3419 of the RYR2 protein (p.Phe3419Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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