ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12532A>T (p.Asn4178Tyr)

dbSNP: rs1481201233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537122 SCV000940124 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2018-12-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in an individual affected with an RYR2-related condition (PMID: 19398665). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 4178 of the RYR2 protein (p.Asn4178Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine.

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