ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)

dbSNP: rs1660612706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245502 SCV001418794 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 4721 of the RYR2 protein (p.Tyr4721His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with catecholaminergic polymorphic ventricular tachycardia (Invitae). 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"). 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.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261974 SCV001439331 likely pathogenic Arrhythmogenic right ventricular dysplasia 2 2020-08-04 no assertion criteria provided clinical testing

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